Canonical Allele Identifier: CA384905234

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52314546C>A (hg19) ; chr12:g.51920762C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920762C>A , CM000674.2:g.51920762C>A	GRCh38
NC_000012.11:g.52314546C>A , CM000674.1:g.52314546C>A	GRCh37
NC_000012.10:g.50600813C>A	NCBI36
NG_009549.1:g.18345C>A , LRG_543:g.18345C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000388922.9:c.1381C>A MANE Select	ENSP00000373574.4:p.Leu461Ile
ENST00000388922.8:c.1381C>A	ENSP00000373574.4:p.Leu461Ile
ENST00000419526.6:c.859C>A	ENSP00000392492.2:p.Leu287Ile
ENST00000550683.5:c.1423C>A	ENSP00000447884.1:p.Leu475Ile
NM_000020.2:c.1381C>A , LRG_543t1:c.1381C>A	NP_000011.2:p.Leu461Ile
NM_001077401.1:c.1381C>A	NP_001070869.1:p.Leu461Ile
XM_005269235.2:c.1381C>A	XP_005269292.1:p.Leu461Ile
XM_011539008.1:c.1111C>A	XP_011537310.1:p.Leu371Ile
XM_024449279.1:c.592C>A	XP_024305047.1:p.Leu198Ile
NM_000020.3:c.1381C>A MANE Select	NP_000011.2:p.Leu461Ile
NM_001077401.2:c.1381C>A	NP_001070869.1:p.Leu461Ile