Canonical Allele Identifier: CA384901709

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52309261T>A (hg19) ; chr12:g.51915477T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915477T>A , CM000674.2:g.51915477T>A	GRCh38
NC_000012.11:g.52309261T>A , CM000674.1:g.52309261T>A	GRCh37
NC_000012.10:g.50595528T>A	NCBI36
NG_009549.1:g.13060T>A , LRG_543:g.13060T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.755T>A	ENSP00000446724.2:p.Leu252Gln
ENST00000551576.6:c.1025T>A	ENSP00000455848.2:p.Leu342Gln
ENST00000552678.2:c.1025T>A	ENSP00000457394.2:p.Leu342Gln
ENST00000388922.9:c.1025T>A MANE Select	ENSP00000373574.4:p.Leu342Gln
ENST00000388922.8:c.1025T>A	ENSP00000373574.4:p.Leu342Gln
ENST00000419526.6:c.503T>A	ENSP00000392492.2:p.Leu168Gln
ENST00000550683.5:c.1067T>A	ENSP00000447884.1:p.Leu356Gln
ENST00000552678.1:c.30T>A
NM_000020.2:c.1025T>A , LRG_543t1:c.1025T>A	NP_000011.2:p.Leu342Gln
NM_001077401.1:c.1025T>A	NP_001070869.1:p.Leu342Gln
XM_005269235.2:c.1025T>A	XP_005269292.1:p.Leu342Gln
XM_011539008.1:c.755T>A	XP_011537310.1:p.Leu252Gln
XM_024449279.1:c.236T>A	XP_024305047.1:p.Leu79Gln
NM_000020.3:c.1025T>A MANE Select	NP_000011.2:p.Leu342Gln
NM_001077401.2:c.1025T>A	NP_001070869.1:p.Leu342Gln