Canonical Allele Identifier: CA11234979
Gene: ACVR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.157840017G>T , CM000664.2:g.157840017G>T GRCh38
NC_000002.11:g.158696529G>T , CM000664.1:g.158696529G>T GRCh37
NC_000002.10:g.158404775G>T NCBI36
NG_008004.1:g.40095C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682025.1:c.-301-13371C>A ENSP00000507086.1:n.-301-13371C>A
ENST00000682300.1:c.-301-13371C>A ENSP00000507102.1:n.-301-13371C>A
ENST00000683404.1:c.-182-21458C>A ENSP00000506824.1:n.-182-21458C>A
ENST00000683426.1:c.-182-21458C>A ENSP00000507597.1:n.-182-21458C>A
ENST00000683441.1:c.-190-21458C>A ENSP00000508189.1:n.-190-21458C>A
ENST00000683487.1:c.-183+20016C>A ENSP00000507113.1:n.-183+20016C>A
ENST00000683820.1:c.-298-21458C>A ENSP00000507727.1:n.-298-21458C>A
ENST00000684348.1:c.-182-21458C>A ENSP00000508136.1:n.-182-21458C>A
ENST00000684595.1:c.-8+34847C>A ENSP00000507730.1:n.-8+34847C>A
ENST00000424669.6:c.-269-20528C>A ENSP00000400767.2:n.-269-20528C>A
ENST00000434821.7:c.-182-21458C>A MANE Select ENSP00000405004.1:n.-182-21458C>A
ENST00000539637.6:c.-301-13371C>A ENSP00000440091.2:n.-301-13371C>A
ENST00000672582.1:c.-183+20016C>A ENSP00000500605.1:n.-183+20016C>A
ENST00000673324.1:c.-183+20016C>A ENSP00000500109.1:n.-183+20016C>A
ENST00000263640.7:c.-182-21458C>A ENSP00000263640.3:n.-182-21458C>A
ENST00000413751.1:c.-301-13371C>A ENSP00000399322.1:n.-301-13371C>A
ENST00000424669.5:c.-269-20528C>A ENSP00000400767.1:n.-269-20528C>A
ENST00000434821.5:c.-182-21458C>A ENSP00000405004.1:n.-182-21458C>A
ENST00000440523.5:c.-182-21458C>A ENSP00000401189.1:n.-182-21458C>A
ENST00000539637.5:c.-301-13371C>A ENSP00000440091.1:n.-301-13371C>A
NM_001105.4:c.-182-21458C>A NP_001096.1:n.-182-21458C>A
NM_001111067.2:c.-182-21458C>A NP_001104537.1:n.-182-21458C>A
XM_011512106.1:c.-183+20016C>A XP_011510408.1:n.-183+20016C>A
XM_011512107.1:c.-182-21458C>A XP_011510409.1:n.-182-21458C>A
NM_001347663.1:c.-182-21458C>A NP_001334592.1:n.-182-21458C>A
NM_001347664.1:c.-301-13371C>A NP_001334593.1:n.-301-13371C>A
NM_001347665.1:c.-269-20528C>A NP_001334594.1:n.-269-20528C>A
NM_001347666.1:c.-183+20016C>A NP_001334595.1:n.-183+20016C>A
XM_006712825.4:c.-298-21458C>A XP_006712888.1:n.-298-21458C>A
NM_001105.5:c.-182-21458C>A NP_001096.1:n.-182-21458C>A
NM_001111067.4:c.-182-21458C>A MANE Select NP_001104537.1:n.-182-21458C>A
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