Canonical Allele Identifier: CA236360796

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1032509719
• gnomAD v2: 12-52305831-G-A
• gnomAD v3: 12-51912047-G-A
• gnomAD v4: 12-51912047-G-A
• MyVariant Identifiers: chr12:g.52305831G>A (hg19) ; chr12:g.51912047G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912047G>A , CM000674.2:g.51912047G>A	GRCh38
NC_000012.11:g.52305831G>A , CM000674.1:g.52305831G>A	GRCh37
NC_000012.10:g.50592098G>A	NCBI36
NG_009549.1:g.9630G>A , LRG_543:g.9630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.-5-423G>A	ENSP00000455848.2:n.-5-423G>A
ENST00000552678.2:c.-5-423G>A	ENSP00000457394.2:n.-5-423G>A
ENST00000388922.9:c.-5-423G>A MANE Select	ENSP00000373574.4:n.-5-423G>A
ENST00000388922.8:c.-5-423G>A	ENSP00000373574.4:n.-5-423G>A
ENST00000551576.5:c.-5-423G>A	ENSP00000455848.1:n.-5-423G>A
NM_000020.2:c.-5-423G>A , LRG_543t1:c.-5-423G>A	NP_000011.2:n.-5-423G>A
XM_005269235.2:c.-5-423G>A	XP_005269292.1:n.-5-423G>A
NM_000020.3:c.-5-423G>A MANE Select	NP_000011.2:n.-5-423G>A