Canonical Allele Identifier: CA689762863

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1336668768
• gnomAD v3: 12-51912042-G-C
• gnomAD v4: 12-51912042-G-C
• MyVariant Identifiers: chr12:g.52305826G>C (hg19) ; chr12:g.51912042G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912042G>C , CM000674.2:g.51912042G>C	GRCh38
NC_000012.11:g.52305826G>C , CM000674.1:g.52305826G>C	GRCh37
NC_000012.10:g.50592093G>C	NCBI36
NG_009549.1:g.9625G>C , LRG_543:g.9625G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.-5-428G>C	ENSP00000455848.2:n.-5-428G>C
ENST00000552678.2:c.-5-428G>C	ENSP00000457394.2:n.-5-428G>C
ENST00000388922.9:c.-5-428G>C MANE Select	ENSP00000373574.4:n.-5-428G>C
ENST00000388922.8:c.-5-428G>C	ENSP00000373574.4:n.-5-428G>C
ENST00000551576.5:c.-5-428G>C	ENSP00000455848.1:n.-5-428G>C
NM_000020.2:c.-5-428G>C , LRG_543t1:c.-5-428G>C	NP_000011.2:n.-5-428G>C
XM_005269235.2:c.-5-428G>C	XP_005269292.1:n.-5-428G>C
NM_000020.3:c.-5-428G>C MANE Select	NP_000011.2:n.-5-428G>C