Canonical Allele Identifier: CA452161745
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132211639C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890499C>T , CM000668.2:g.131890499C>T GRCh38
NC_000006.11:g.132211639C>T , CM000668.1:g.132211639C>T GRCh37
NC_000006.10:g.132253332C>T NCBI36
NG_008206.1:g.87484C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1197C>T
ENST00000647893.1:c.2766C>T MANE Select ENSP00000498074.1:p.Ser922=
ENST00000360971.6:c.2766C>T ENSP00000354238.2:p.Ser922=
ENST00000513998.5:c.*1603C>T ENSP00000422424.1:n.*1603C>T
NM_006208.2:c.2766C>T NP_006199.2:p.Ser922=
XM_011535896.1:c.1656C>T XP_011534198.1:p.Ser552=
NM_006208.3:c.2766C>T MANE Select NP_006199.2:p.Ser922=