Canonical Allele Identifier: CA2036241809

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920811C= , CM000674.2:g.51920811C=	GRCh38
NC_000012.11:g.52314595C= , CM000674.1:g.52314595C=	GRCh37
NC_000012.10:g.50600862C=	NCBI36
NG_009549.1:g.18394C= , LRG_543:g.18394C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1160C=	ENSP00000446724.2:p.Ser387=
ENST00000551576.6:c.1430C=	ENSP00000455848.2:p.Ser477=
ENST00000388922.9:c.1430C= MANE Select	ENSP00000373574.4:p.Ser477=
ENST00000388922.8:c.1430C=	ENSP00000373574.4:p.Ser477=
ENST00000419526.6:c.908C=	ENSP00000392492.2:p.Ser303=
ENST00000550683.5:c.1472C=	ENSP00000447884.1:p.Ser491=
NM_000020.2:c.1430C= , LRG_543t1:c.1430C=	NP_000011.2:p.Ser477=
NM_001077401.1:c.1430C=	NP_001070869.1:p.Ser477=
XM_005269235.2:c.1430C=	XP_005269292.1:p.Ser477=
XM_011539008.1:c.1160C=	XP_011537310.1:p.Ser387=
XM_024449279.1:c.641C=	XP_024305047.1:p.Ser214=
NM_000020.3:c.1430C= MANE Select	NP_000011.2:p.Ser477=
NM_001077401.2:c.1430C=	NP_001070869.1:p.Ser477=