Canonical Allele Identifier: CA2036269503

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915388C= , CM000674.2:g.51915388C=	GRCh38
NC_000012.11:g.52309172C= , CM000674.1:g.52309172C=	GRCh37
NC_000012.10:g.50595439C=	NCBI36
NG_009549.1:g.12971C= , LRG_543:g.12971C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.666C=	ENSP00000446724.2:p.His222=
ENST00000551576.6:c.936C=	ENSP00000455848.2:p.His312=
ENST00000552678.2:c.936C=	ENSP00000457394.2:p.His312=
ENST00000388922.9:c.936C= MANE Select	ENSP00000373574.4:p.His312=
ENST00000388922.8:c.936C=	ENSP00000373574.4:p.His312=
ENST00000419526.6:c.414C=	ENSP00000392492.2:p.His138=
ENST00000550683.5:c.978C=	ENSP00000447884.1:p.His326=
NM_000020.2:c.936C= , LRG_543t1:c.936C=	NP_000011.2:p.His312=
NM_001077401.1:c.936C=	NP_001070869.1:p.His312=
XM_005269235.2:c.936C=	XP_005269292.1:p.His312=
XM_011539008.1:c.666C=	XP_011537310.1:p.His222=
XM_024449279.1:c.147C=	XP_024305047.1:p.His49=
NM_000020.3:c.936C= MANE Select	NP_000011.2:p.His312=
NM_001077401.2:c.936C=	NP_001070869.1:p.His312=