Canonical Allele Identifier: CA452157146
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132198229A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131877089A>G , CM000668.2:g.131877089A>G GRCh38
NC_000006.11:g.132198229A>G , CM000668.1:g.132198229A>G GRCh37
NC_000006.10:g.132239922A>G NCBI36
NG_008206.1:g.74074A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000683687.1:n.693A>G
ENST00000684536.1:n.319A>G
ENST00000647893.1:c.1821A>G MANE Select ENSP00000498074.1:p.Glu607=
ENST00000647981.1:n.506A>G
ENST00000650437.1:c.1312A>G
ENST00000360971.6:c.1821A>G ENSP00000354238.2:p.Glu607=
ENST00000459624.1:n.865A>G
ENST00000513998.5:c.*658A>G ENSP00000422424.1:n.*658A>G
NM_006208.2:c.1821A>G NP_006199.2:p.Glu607=
XM_011535896.1:c.711A>G XP_011534198.1:p.Glu237=
NM_006208.3:c.1821A>G MANE Select NP_006199.2:p.Glu607=