Canonical Allele Identifier: CA2971871026

Gene: ACVR1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.157839969G>A , CM000664.2:g.157839969G>A	GRCh38
NC_000002.11:g.158696481G>A , CM000664.1:g.158696481G>A	GRCh37
NC_000002.10:g.158404727G>A	NCBI36
NG_008004.1:g.40143C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001111067.4:c.-182-21410C>T MANE Select	NP_001104537.1:n.-182-21410C>T
ENST00000434821.7:c.-182-21410C>T MANE Select	ENSP00000405004.1:n.-182-21410C>T
NM_001105.4:c.-182-21410C>T	NP_001096.1:n.-182-21410C>T
NM_001105.5:c.-182-21410C>T	NP_001096.1:n.-182-21410C>T
NM_001111067.2:c.-182-21410C>T	NP_001104537.1:n.-182-21410C>T
NM_001347663.1:c.-182-21410C>T	NP_001334592.1:n.-182-21410C>T
NM_001347664.1:c.-301-13323C>T	NP_001334593.1:n.-301-13323C>T
NM_001347665.1:c.-269-20480C>T	NP_001334594.1:n.-269-20480C>T
NM_001347666.1:c.-183+20064C>T	NP_001334595.1:n.-183+20064C>T
ENST00000263640.7:c.-182-21410C>T	ENSP00000263640.3:n.-182-21410C>T
ENST00000413751.1:c.-301-13323C>T	ENSP00000399322.1:n.-301-13323C>T
ENST00000424669.5:c.-269-20480C>T	ENSP00000400767.1:n.-269-20480C>T
ENST00000424669.6:c.-269-20480C>T	ENSP00000400767.2:n.-269-20480C>T
ENST00000434821.5:c.-182-21410C>T	ENSP00000405004.1:n.-182-21410C>T
ENST00000440523.5:c.-182-21410C>T	ENSP00000401189.1:n.-182-21410C>T
ENST00000539637.5:c.-301-13323C>T	ENSP00000440091.1:n.-301-13323C>T
ENST00000539637.6:c.-301-13323C>T	ENSP00000440091.2:n.-301-13323C>T
ENST00000672582.1:c.-183+20064C>T	ENSP00000500605.1:n.-183+20064C>T
ENST00000673324.1:c.-183+20064C>T	ENSP00000500109.1:n.-183+20064C>T
ENST00000682025.1:c.-301-13323C>T	ENSP00000507086.1:n.-301-13323C>T
ENST00000682300.1:c.-301-13323C>T	ENSP00000507102.1:n.-301-13323C>T
ENST00000683404.1:c.-182-21410C>T	ENSP00000506824.1:n.-182-21410C>T
ENST00000683426.1:c.-182-21410C>T	ENSP00000507597.1:n.-182-21410C>T
ENST00000683441.1:c.-190-21410C>T	ENSP00000508189.1:n.-190-21410C>T
ENST00000683487.1:c.-183+20064C>T	ENSP00000507113.1:n.-183+20064C>T
ENST00000683820.1:c.-298-21410C>T	ENSP00000507727.1:n.-298-21410C>T
ENST00000684348.1:c.-182-21410C>T	ENSP00000508136.1:n.-182-21410C>T
ENST00000684595.1:c.-8+34895C>T	ENSP00000507730.1:n.-8+34895C>T
XM_006712825.4:c.-298-21410C>T	XP_006712888.1:n.-298-21410C>T
XM_011512106.1:c.-183+20064C>T	XP_011510408.1:n.-183+20064C>T
XM_011512107.1:c.-182-21410C>T	XP_011510409.1:n.-182-21410C>T