Canonical Allele Identifier: CA2575161226

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51912342-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912342T>C , CM000674.2:g.51912342T>C	GRCh38
NC_000012.11:g.52306126T>C , CM000674.1:g.52306126T>C	GRCh37
NC_000012.10:g.50592393T>C	NCBI36
NG_009549.1:g.9925T>C , LRG_543:g.9925T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.-91T>C	ENSP00000446724.2:n.-91T>C
ENST00000551576.6:c.-5-128T>C	ENSP00000455848.2:n.-5-128T>C
ENST00000552678.2:c.-5-128T>C	ENSP00000457394.2:n.-5-128T>C
ENST00000388922.9:c.-5-128T>C MANE Select	ENSP00000373574.4:n.-5-128T>C
ENST00000388922.8:c.-5-128T>C	ENSP00000373574.4:n.-5-128T>C
ENST00000547400.5:c.-91T>C	ENSP00000446724.1:n.-91T>C
ENST00000550683.5:c.-91T>C	ENSP00000447884.1:n.-91T>C
ENST00000551576.5:c.-5-128T>C	ENSP00000455848.1:n.-5-128T>C
NM_000020.2:c.-5-128T>C , LRG_543t1:c.-5-128T>C	NP_000011.2:n.-5-128T>C
NM_001077401.1:c.-133T>C	NP_001070869.1:n.-133T>C
XM_005269235.2:c.-5-128T>C	XP_005269292.1:n.-5-128T>C
XM_011539008.1:c.-91T>C	XP_011537310.1:n.-91T>C
NM_000020.3:c.-5-128T>C MANE Select	NP_000011.2:n.-5-128T>C