Canonical Allele Identifier: CA10637899
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 309436
ClinVar RCV Id: RCV000292574
dbSNP Id: rs886049606

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51907507A>C , CM000674.2:g.51907507A>C GRCh38
NC_000012.11:g.52301291A>C , CM000674.1:g.52301291A>C GRCh37
NC_000012.10:g.50587558A>C NCBI36
NG_009549.1:g.5090A>C , LRG_543:g.5090A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000551576.6:c.-194A>C ENSP00000455848.2:n.-194A>C
ENST00000388922.9:c.-194A>C MANE Select ENSP00000373574.4:n.-194A>C
ENST00000388922.8:c.-194A>C ENSP00000373574.4:n.-194A>C
ENST00000551576.5:c.-194A>C ENSP00000455848.1:n.-194A>C
NM_000020.2:c.-194A>C , LRG_543t1:c.-194A>C NP_000011.2:n.-194A>C
XM_005269235.2:c.-194A>C XP_005269292.1:n.-194A>C
NM_000020.3:c.-194A>C MANE Select NP_000011.2:n.-194A>C