Canonical Allele Identifier: CA365661427
Gene: ENPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890492C>G , CM000668.2:g.131890492C>G GRCh38
NC_000006.11:g.132211632C>G , CM000668.1:g.132211632C>G GRCh37
NC_000006.10:g.132253325C>G NCBI36
NG_008206.1:g.87477C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1190C>G
ENST00000647893.1:c.2759C>G MANE Select ENSP00000498074.1:p.Thr920Ser
ENST00000360971.6:c.2759C>G ENSP00000354238.2:p.Thr920Ser
ENST00000513998.5:c.*1596C>G ENSP00000422424.1:n.*1596C>G
NM_006208.2:c.2759C>G NP_006199.2:p.Thr920Ser
XM_011535896.1:c.1649C>G XP_011534198.1:p.Thr550Ser
NM_006208.3:c.2759C>G MANE Select NP_006199.2:p.Thr920Ser