Canonical Allele Identifier: CA236361080

Gene: ACVRL1

Linked Data

• dbSNP Id: rs527611721
• gnomAD v3: 12-51912351-G-A
• gnomAD v4: 12-51912351-G-A
• MyVariant Identifiers: chr12:g.52306135G>A (hg19) ; chr12:g.51912351G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912351G>A , CM000674.2:g.51912351G>A	GRCh38
NC_000012.11:g.52306135G>A , CM000674.1:g.52306135G>A	GRCh37
NC_000012.10:g.50592402G>A	NCBI36
NG_009549.1:g.9934G>A , LRG_543:g.9934G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.-82G>A	ENSP00000446724.2:n.-82G>A
ENST00000551576.6:c.-5-119G>A	ENSP00000455848.2:n.-5-119G>A
ENST00000552678.2:c.-5-119G>A	ENSP00000457394.2:n.-5-119G>A
ENST00000388922.9:c.-5-119G>A MANE Select	ENSP00000373574.4:n.-5-119G>A
ENST00000388922.8:c.-5-119G>A	ENSP00000373574.4:n.-5-119G>A
ENST00000547400.5:c.-82G>A	ENSP00000446724.1:n.-82G>A
ENST00000550683.5:c.-82G>A	ENSP00000447884.1:n.-82G>A
ENST00000551576.5:c.-5-119G>A	ENSP00000455848.1:n.-5-119G>A
NM_000020.2:c.-5-119G>A , LRG_543t1:c.-5-119G>A	NP_000011.2:n.-5-119G>A
NM_001077401.1:c.-124G>A	NP_001070869.1:n.-124G>A
XM_005269235.2:c.-5-119G>A	XP_005269292.1:n.-5-119G>A
XM_011539008.1:c.-82G>A	XP_011537310.1:n.-82G>A
NM_000020.3:c.-5-119G>A MANE Select	NP_000011.2:n.-5-119G>A