Canonical Allele Identifier: CA6573013

Gene: ACVRL1

Linked Data

• dbSNP Id: rs769915007
• ExAC: 12:52309130 G / A
• gnomAD v2: 12-52309130-G-A
• gnomAD v4: 12-51915346-G-A
• MyVariant Identifiers: chr12:g.52309130G>A (hg19) ; chr12:g.51915346G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915346G>A , CM000674.2:g.51915346G>A	GRCh38
NC_000012.11:g.52309130G>A , CM000674.1:g.52309130G>A	GRCh37
NC_000012.10:g.50595397G>A	NCBI36
NG_009549.1:g.12929G>A , LRG_543:g.12929G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.624G>A	ENSP00000446724.2:p.Leu208=
ENST00000551576.6:c.894G>A	ENSP00000455848.2:p.Leu298=
ENST00000552678.2:c.894G>A	ENSP00000457394.2:p.Leu298=
ENST00000388922.9:c.894G>A MANE Select	ENSP00000373574.4:p.Leu298=
ENST00000388922.8:c.894G>A	ENSP00000373574.4:p.Leu298=
ENST00000419526.6:c.372G>A	ENSP00000392492.2:p.Leu124=
ENST00000550683.5:c.936G>A	ENSP00000447884.1:p.Leu312=
NM_000020.2:c.894G>A , LRG_543t1:c.894G>A	NP_000011.2:p.Leu298=
NM_001077401.1:c.894G>A	NP_001070869.1:p.Leu298=
XM_005269235.2:c.894G>A	XP_005269292.1:p.Leu298=
XM_011539008.1:c.624G>A	XP_011537310.1:p.Leu208=
XM_024449279.1:c.105G>A	XP_024305047.1:p.Leu35=
NM_000020.3:c.894G>A MANE Select	NP_000011.2:p.Leu298=
NM_001077401.2:c.894G>A	NP_001070869.1:p.Leu298=