Canonical Allele Identifier: CA2036269489

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915368G= , CM000674.2:g.51915368G=	GRCh38
NC_000012.11:g.52309152G= , CM000674.1:g.52309152G=	GRCh37
NC_000012.10:g.50595419G=	NCBI36
NG_009549.1:g.12951G= , LRG_543:g.12951G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.646G=	ENSP00000446724.2:p.Ala216=
ENST00000551576.6:c.916G=	ENSP00000455848.2:p.Ala306=
ENST00000552678.2:c.916G=	ENSP00000457394.2:p.Ala306=
ENST00000388922.9:c.916G= MANE Select	ENSP00000373574.4:p.Ala306=
ENST00000388922.8:c.916G=	ENSP00000373574.4:p.Ala306=
ENST00000419526.6:c.394G=	ENSP00000392492.2:p.Ala132=
ENST00000550683.5:c.958G=	ENSP00000447884.1:p.Ala320=
NM_000020.2:c.916G= , LRG_543t1:c.916G=	NP_000011.2:p.Ala306=
NM_001077401.1:c.916G=	NP_001070869.1:p.Ala306=
XM_005269235.2:c.916G=	XP_005269292.1:p.Ala306=
XM_011539008.1:c.646G=	XP_011537310.1:p.Ala216=
XM_024449279.1:c.127G=	XP_024305047.1:p.Ala43=
NM_000020.3:c.916G= MANE Select	NP_000011.2:p.Ala306=
NM_001077401.2:c.916G=	NP_001070869.1:p.Ala306=