Canonical Allele Identifier: CA365661514
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132211640C>G (hg19) chr6:g.131890500C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890500C>G , CM000668.2:g.131890500C>G GRCh38
NC_000006.11:g.132211640C>G , CM000668.1:g.132211640C>G GRCh37
NC_000006.10:g.132253333C>G NCBI36
NG_008206.1:g.87485C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1198C>G
ENST00000647893.1:c.2767C>G MANE Select ENSP00000498074.1:p.Gln923Glu
ENST00000360971.6:c.2767C>G ENSP00000354238.2:p.Gln923Glu
ENST00000513998.5:c.*1604C>G ENSP00000422424.1:n.*1604C>G
NM_006208.2:c.2767C>G NP_006199.2:p.Gln923Glu
XM_011535896.1:c.1657C>G XP_011534198.1:p.Gln553Glu
NM_006208.3:c.2767C>G MANE Select NP_006199.2:p.Gln923Glu
Search 100 bp 5'
Search 100 bp 3'