Canonical Allele Identifier: CA6573003

Gene: ACVRL1

Linked Data

• dbSNP Id: rs780860797
• ExAC: 12:52309059 C / A
• gnomAD v2: 12-52309059-C-A
• gnomAD v4: 12-51915275-C-A
• MyVariant Identifiers: chr12:g.52309059C>A (hg19) ; chr12:g.51915275C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915275C>A , CM000674.2:g.51915275C>A	GRCh38
NC_000012.11:g.52309059C>A , CM000674.1:g.52309059C>A	GRCh37
NC_000012.10:g.50595326C>A	NCBI36
NG_009549.1:g.12858C>A , LRG_543:g.12858C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.553C>A	ENSP00000446724.2:p.Leu185Ile
ENST00000551576.6:c.823C>A	ENSP00000455848.2:p.Leu275Ile
ENST00000552678.2:c.823C>A	ENSP00000457394.2:p.Leu275Ile
ENST00000388922.9:c.823C>A MANE Select	ENSP00000373574.4:p.Leu275Ile
ENST00000388922.8:c.823C>A	ENSP00000373574.4:p.Leu275Ile
ENST00000419526.6:c.301C>A	ENSP00000392492.2:p.Leu101Ile
ENST00000550683.5:c.865C>A	ENSP00000447884.1:p.Leu289Ile
NM_000020.2:c.823C>A , LRG_543t1:c.823C>A	NP_000011.2:p.Leu275Ile
NM_001077401.1:c.823C>A	NP_001070869.1:p.Leu275Ile
XM_005269235.2:c.823C>A	XP_005269292.1:p.Leu275Ile
XM_011539008.1:c.553C>A	XP_011537310.1:p.Leu185Ile
XM_024449279.1:c.34C>A	XP_024305047.1:p.Leu12Ile
NM_000020.3:c.823C>A MANE Select	NP_000011.2:p.Leu275Ile
NM_001077401.2:c.823C>A	NP_001070869.1:p.Leu275Ile