Canonical Allele Identifier: CA145330
Gene: ENPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 88750
ClinVar RCV Id: RCV000074401
dbSNP Id: rs397518475

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851241G>A , CM000668.2:g.131851241G>A GRCh38
NC_000006.11:g.132172381G>A , CM000668.1:g.132172381G>A GRCh37
NC_000006.10:g.132214074G>A NCBI36
NG_008206.1:g.48226G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647893.1:c.530G>A MANE Select ENSP00000498074.1:p.Cys177Tyr
ENST00000650147.1:c.208G>A
ENST00000650437.1:c.108+1135G>A
ENST00000360971.6:c.530G>A ENSP00000354238.2:p.Cys177Tyr
ENST00000486853.1:n.550G>A
ENST00000513998.5:c.530G>A ENSP00000422424.1:p.Cys177Tyr
NM_006208.2:c.530G>A NP_006199.2:p.Cys177Tyr
NM_006208.3:c.530G>A MANE Select NP_006199.2:p.Cys177Tyr