Canonical Allele Identifier: CA2596578362

Gene: ACVRL1

Linked Data

• dbSNP Id: rs2139061955
• gnomAD v3: 12-51912331-G-A
• gnomAD v4: 12-51912331-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912331G>A , CM000674.2:g.51912331G>A	GRCh38
NC_000012.11:g.52306115G>A , CM000674.1:g.52306115G>A	GRCh37
NC_000012.10:g.50592382G>A	NCBI36
NG_009549.1:g.9914G>A , LRG_543:g.9914G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.-102G>A	ENSP00000446724.2:n.-102G>A
ENST00000551576.6:c.-5-139G>A	ENSP00000455848.2:n.-5-139G>A
ENST00000552678.2:c.-5-139G>A	ENSP00000457394.2:n.-5-139G>A
ENST00000388922.9:c.-5-139G>A MANE Select	ENSP00000373574.4:n.-5-139G>A
ENST00000388922.8:c.-5-139G>A	ENSP00000373574.4:n.-5-139G>A
ENST00000547400.5:c.-102G>A	ENSP00000446724.1:n.-102G>A
ENST00000551576.5:c.-5-139G>A	ENSP00000455848.1:n.-5-139G>A
NM_000020.2:c.-5-139G>A , LRG_543t1:c.-5-139G>A	NP_000011.2:n.-5-139G>A
NM_001077401.1:c.-144G>A	NP_001070869.1:n.-144G>A
XM_005269235.2:c.-5-139G>A	XP_005269292.1:n.-5-139G>A
NM_000020.3:c.-5-139G>A MANE Select	NP_000011.2:n.-5-139G>A