Canonical Allele Identifier: CA2036266031

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912358C= , CM000674.2:g.51912358C=	GRCh38
NC_000012.11:g.52306142C= , CM000674.1:g.52306142C=	GRCh37
NC_000012.10:g.50592409C=	NCBI36
NG_009549.1:g.9941C= , LRG_543:g.9941C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.-75C=	ENSP00000446724.2:n.-75C=
ENST00000551576.6:c.-5-112C=	ENSP00000455848.2:n.-5-112C=
ENST00000552678.2:c.-5-112C=	ENSP00000457394.2:n.-5-112C=
ENST00000388922.9:c.-5-112C= MANE Select	ENSP00000373574.4:n.-5-112C=
ENST00000388922.8:c.-5-112C=	ENSP00000373574.4:n.-5-112C=
ENST00000547400.5:c.-75C=	ENSP00000446724.1:n.-75C=
ENST00000550683.5:c.-75C=	ENSP00000447884.1:n.-75C=
ENST00000551576.5:c.-5-112C=	ENSP00000455848.1:n.-5-112C=
NM_000020.2:c.-5-112C= , LRG_543t1:c.-5-112C=	NP_000011.2:n.-5-112C=
NM_001077401.1:c.-117C=	NP_001070869.1:n.-117C=
XM_005269235.2:c.-5-112C=	XP_005269292.1:n.-5-112C=
XM_011539008.1:c.-75C=	XP_011537310.1:n.-75C=
NM_000020.3:c.-5-112C= MANE Select	NP_000011.2:n.-5-112C=