Canonical Allele Identifier: CA365668936
Gene: ENPP1 HGNC NCBI

Linked Data

COSMIC: COSM271753

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131861608C>T , CM000668.2:g.131861608C>T GRCh38
NC_000006.11:g.132182748C>T , CM000668.1:g.132182748C>T GRCh37
NC_000006.10:g.132224441C>T NCBI36
NG_008206.1:g.58593C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.929C>T MANE Select ENSP00000498074.1:p.Ala310Val
ENST00000650147.1:c.546C>T
ENST00000650437.1:c.420C>T
ENST00000360971.6:c.929C>T ENSP00000354238.2:p.Ala310Val
ENST00000513998.5:c.929C>T ENSP00000422424.1:p.Ala310Val
NM_006208.2:c.929C>T NP_006199.2:p.Ala310Val
NM_006208.3:c.929C>T MANE Select NP_006199.2:p.Ala310Val