Canonical Allele Identifier: CA384905912
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426039
ClinVar RCV Id: RCV002272257
dbSNP Id: rs1085307428
MyVariant Identifiers: chr12:g.52314625A>C (hg19) chr12:g.51920841A>C (hg38)
PubMed: PMID:14684682 PMID:26387786
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920841A>C , CM000674.2:g.51920841A>C GRCh38
NC_000012.11:g.52314625A>C , CM000674.1:g.52314625A>C GRCh37
NC_000012.10:g.50600892A>C NCBI36
NG_009549.1:g.18424A>C , LRG_543:g.18424A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.1190A>C ENSP00000446724.2:p.Lys397Thr
ENST00000551576.6:c.1460A>C ENSP00000455848.2:p.Lys487Thr
ENST00000388922.9:c.1460A>C MANE Select ENSP00000373574.4:p.Lys487Thr
ENST00000388922.8:c.1460A>C ENSP00000373574.4:p.Lys487Thr
ENST00000419526.6:c.938A>C ENSP00000392492.2:p.Lys313Thr
ENST00000550683.5:c.1502A>C ENSP00000447884.1:p.Lys501Thr
NM_000020.2:c.1460A>C , LRG_543t1:c.1460A>C NP_000011.2:p.Lys487Thr
NM_001077401.1:c.1460A>C NP_001070869.1:p.Lys487Thr
XM_005269235.2:c.1460A>C XP_005269292.1:p.Lys487Thr
XM_011539008.1:c.1190A>C XP_011537310.1:p.Lys397Thr
XM_024449279.1:c.671A>C XP_024305047.1:p.Lys224Thr
NM_000020.3:c.1460A>C MANE Select NP_000011.2:p.Lys487Thr
NM_001077401.2:c.1460A>C NP_001070869.1:p.Lys487Thr
Search 100 bp 5'
Search 100 bp 3'