Canonical Allele Identifier: CA365661429
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132211632C>A (hg19) chr6:g.131890492C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1190C>A
ENST00000647893.1:c.2759C>A MANE Select ENSP00000498074.1:p.Thr920Asn
ENST00000360971.6:c.2759C>A ENSP00000354238.2:p.Thr920Asn
ENST00000513998.5:c.*1596C>A ENSP00000422424.1:n.*1596C>A
NM_006208.2:c.2759C>A NP_006199.2:p.Thr920Asn
XM_011535896.1:c.1649C>A XP_011534198.1:p.Thr550Asn
NM_006208.3:c.2759C>A MANE Select NP_006199.2:p.Thr920Asn
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