Canonical Allele Identifier: CA452157153
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132198238C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131877098C>T , CM000668.2:g.131877098C>T GRCh38
NC_000006.11:g.132198238C>T , CM000668.1:g.132198238C>T GRCh37
NC_000006.10:g.132239931C>T NCBI36
NG_008206.1:g.74083C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683687.1:n.702C>T
ENST00000684536.1:n.328C>T
ENST00000647893.1:c.1830C>T MANE Select ENSP00000498074.1:p.Pro610=
ENST00000647981.1:n.515C>T
ENST00000650437.1:c.1321C>T
ENST00000360971.6:c.1830C>T ENSP00000354238.2:p.Pro610=
ENST00000459624.1:n.874C>T
ENST00000513998.5:c.*667C>T ENSP00000422424.1:n.*667C>T
NM_006208.2:c.1830C>T NP_006199.2:p.Pro610=
XM_011535896.1:c.720C>T XP_011534198.1:p.Pro240=
NM_006208.3:c.1830C>T MANE Select NP_006199.2:p.Pro610=