Canonical Allele Identifier: CA2036237119

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916202G= , CM000674.2:g.51916202G=	GRCh38
NC_000012.11:g.52309986G= , CM000674.1:g.52309986G=	GRCh37
NC_000012.10:g.50596253G=	NCBI36
NG_009549.1:g.13785G= , LRG_543:g.13785G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.945G=	ENSP00000446724.2:p.Leu315=
ENST00000551576.6:c.1215G=	ENSP00000455848.2:p.Leu405=
ENST00000552678.2:c.1215G=	ENSP00000457394.2:p.Leu405=
ENST00000388922.9:c.1215G= MANE Select	ENSP00000373574.4:p.Leu405=
ENST00000388922.8:c.1215G=	ENSP00000373574.4:p.Leu405=
ENST00000419526.6:c.693G=	ENSP00000392492.2:p.Leu231=
ENST00000547632.1:n.490G=
ENST00000550683.5:c.1257G=	ENSP00000447884.1:p.Leu419=
ENST00000552678.1:c.220G=
NM_000020.2:c.1215G= , LRG_543t1:c.1215G=	NP_000011.2:p.Leu405=
NM_001077401.1:c.1215G=	NP_001070869.1:p.Leu405=
XM_005269235.2:c.1215G=	XP_005269292.1:p.Leu405=
XM_011539008.1:c.945G=	XP_011537310.1:p.Leu315=
XM_024449279.1:c.426G=	XP_024305047.1:p.Leu142=
NM_000020.3:c.1215G= MANE Select	NP_000011.2:p.Leu405=
NM_001077401.2:c.1215G=	NP_001070869.1:p.Leu405=