Canonical Allele Identifier: CA365662194
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132172382C>A (hg19) chr6:g.131851242C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851242C>A , CM000668.2:g.131851242C>A GRCh38
NC_000006.11:g.132172382C>A , CM000668.1:g.132172382C>A GRCh37
NC_000006.10:g.132214075C>A NCBI36
NG_008206.1:g.48227C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.531C>A MANE Select ENSP00000498074.1:p.Cys177Ter
ENST00000650147.1:c.209C>A
ENST00000650437.1:c.108+1136C>A
ENST00000360971.6:c.531C>A ENSP00000354238.2:p.Cys177Ter
ENST00000486853.1:n.551C>A
ENST00000513998.5:c.531C>A ENSP00000422424.1:p.Cys177Ter
NM_006208.2:c.531C>A NP_006199.2:p.Cys177Ter
NM_006208.3:c.531C>A MANE Select NP_006199.2:p.Cys177Ter
Search 100 bp 5'
Search 100 bp 3'