All transcript variants in gene ACVR1

Information The variants shown are described using the NM_001105.4 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Owner     
./. - c.-183+6825C>A - - g.157868039G>T dbSNP ACVR1_000036 0.924 Admin
./. - c.-183+7023T>C - - g.157867841A>G dbSNP ACVR1_000035 0.036 Admin
./. - c.-183+10149G>C - - g.157864715C>G dbSNP ACVR1_000034 0.038 Admin
./. - c.-183+14080G>A - - g.157860784C>T dbSNP ACVR1_000032 0.072 Admin
./. - c.-183+14643G>A r.(=) p.(=) g.157860221C>T dbSNP ACVR1_000030 0.892 Admin
./. - c.-183+15912T>C r.(=) p.(=) g.157858952A>G dbSNP ACVR1_000027 0.932 Admin
./. - c.-183+15935T>C - - g.157858929A>G dbSNP ACVR1_000025 0.034 Admin
./. - c.-182-21457T>G - - g.157840016A>C dbSNP ACVR1_000023 0.917 Admin
./. - c.-182-18010T>C - - g.157836569A>G dbSNP ACVR1_000022 0.712 Admin
./. - c.-182-12015T>C r.(=) p.(=) g.157830574A>G dbSNP ACVR1_000020 0.962 Admin
./. - c.-182-11918T>G - - g.157830477A>C dbSNP ACVR1_000017 0.985 Admin
./. - c.-182-6569T>A r.(=) p.(=) g.157825128A>T dbSNP ACVR1_000015 0.049 Admin
./. - c.-8+7681T>C - - g.157810704A>G dbSNP ACVR1_000013 0.750 Admin
./. - c.-7-5776G>A - - g.157805276C>T dbSNP ACVR1_000011 0.053 Admin
./. - c.67+1649C>A r.(=) p.(=) g.157797778G>T dbSNP ACVR1_000009 0.254 Admin
./. - c.67+5408T>G - - g.157794019A>C dbSNP ACVR1_000007 0.932 Admin
./. - c.67+7144G>C - - g.157792283C>G dbSNP ACVR1_000005 0.044 Admin
./. - c.67+8591G>A - - g.157790836C>T dbSNP ACVR1_000033 0.025 Admin
./. - c.67+9202G>A - - g.157790225C>T dbSNP ACVR1_000031 0.767 Admin
./. - c.68-8425G>A - - g.157789025C>T dbSNP ACVR1_000029 0.989 Admin
./. - c.68-2127T>C - - g.157782727A>G dbSNP ACVR1_000028 0.780 Admin
./. - c.543+839T>C r.(=) p.(=) g.157777292A>G dbSNP ACVR1_000026 0.246 Admin
./. - c.643+1536T>C r.(=) p.(=) g.157772552A>G dbSNP ACVR1_000024 0.093 Admin
./. - c.691T>C - - g.157770467A>G dbSNP ACVR1_000021 0.127 Admin
./. - c.790+1938G>A - - g.157768430C>T dbSNP ACVR1_000019 0.966 Admin
./. - c.790+2077T>C - - g.157768291A>G dbSNP ACVR1_000018 0.091 Admin
./. - c.791-1952T>A - - g.157768148A>T dbSNP ACVR1_000016 0.013 Admin
./. - c.791-1692G>A - - g.157767888C>T dbSNP ACVR1_000014 0.064 Admin
./. - c.791-1595G>A r.(=) p.(=) g.157767791C>T dbSNP ACVR1_000012 0.987 Admin
./. - c.1066+539T>A - - g.157765382A>T dbSNP ACVR1_000010 0.735 Admin
./. - c.1066+665T>C - - g.157765256A>G dbSNP ACVR1_000008 0.979 Admin
./. - c.1066+1078T>G - - g.157764843A>C dbSNP ACVR1_000006 0.848 Admin
./. - c.1265-11061G>A - - g.157749631C>T dbSNP ACVR1_000004 0.366 Admin
./. - c.1265-10440T>C - - g.157749010A>G dbSNP ACVR1_000003 0.038 Admin
./. - c.1396-137T>C - - g.157737802A>G dbSNP ACVR1_000002 0.972 Admin
./. - c.1396-92G>A - - g.157737757C>T dbSNP ACVR1_000001 0.044 Admin
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