Canonical Allele Identifier: CA2036242003

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920890A= , CM000674.2:g.51920890A=	GRCh38
NC_000012.11:g.52314674A= , CM000674.1:g.52314674A=	GRCh37
NC_000012.10:g.50600941A=	NCBI36
NG_009549.1:g.18473A= , LRG_543:g.18473A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1239A=	ENSP00000446724.2:p.Gln413=
ENST00000551576.6:c.1509A=	ENSP00000455848.2:p.Gln503=
ENST00000388922.9:c.1509A= MANE Select	ENSP00000373574.4:p.Gln503=
ENST00000388922.8:c.1509A=	ENSP00000373574.4:p.Gln503=
ENST00000419526.6:c.987A=	ENSP00000392492.2:p.Gln329=
ENST00000550683.5:c.1551A=	ENSP00000447884.1:p.Gln517=
NM_000020.2:c.1509A= , LRG_543t1:c.1509A=	NP_000011.2:p.Gln503=
NM_001077401.1:c.1509A=	NP_001070869.1:p.Gln503=
XM_005269235.2:c.1509A=	XP_005269292.1:p.Gln503=
XM_011539008.1:c.1239A=	XP_011537310.1:p.Gln413=
XM_024449279.1:c.720A=	XP_024305047.1:p.Gln240=
NM_000020.3:c.1509A= MANE Select	NP_000011.2:p.Gln503=
NM_001077401.2:c.1509A=	NP_001070869.1:p.Gln503=