Canonical Allele Identifier: CA384900566
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426019
ClinVar RCV Id: RCV002413347
dbSNP Id: rs1085307411
MyVariant Identifiers: chr12:g.52309090T>C (hg19) chr12:g.51915306T>C (hg38)
PubMed: PMID:22632830 PMID:26387786
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915306T>C , CM000674.2:g.51915306T>C GRCh38
NC_000012.11:g.52309090T>C , CM000674.1:g.52309090T>C GRCh37
NC_000012.10:g.50595357T>C NCBI36
NG_009549.1:g.12889T>C , LRG_543:g.12889T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.584T>C ENSP00000446724.2:p.Leu195Pro
ENST00000551576.6:c.854T>C ENSP00000455848.2:p.Leu285Pro
ENST00000552678.2:c.854T>C ENSP00000457394.2:p.Leu285Pro
ENST00000388922.9:c.854T>C MANE Select ENSP00000373574.4:p.Leu285Pro
ENST00000388922.8:c.854T>C ENSP00000373574.4:p.Leu285Pro
ENST00000419526.6:c.332T>C ENSP00000392492.2:p.Leu111Pro
ENST00000550683.5:c.896T>C ENSP00000447884.1:p.Leu299Pro
NM_000020.2:c.854T>C , LRG_543t1:c.854T>C NP_000011.2:p.Leu285Pro
NM_001077401.1:c.854T>C NP_001070869.1:p.Leu285Pro
XM_005269235.2:c.854T>C XP_005269292.1:p.Leu285Pro
XM_011539008.1:c.584T>C XP_011537310.1:p.Leu195Pro
XM_024449279.1:c.65T>C XP_024305047.1:p.Leu22Pro
NM_000020.3:c.854T>C MANE Select NP_000011.2:p.Leu285Pro
NM_001077401.2:c.854T>C NP_001070869.1:p.Leu285Pro
Search 100 bp 5'
Search 100 bp 3'