Canonical Allele Identifier: CA4002592
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs146868608
ExAC: 6:132211484 G / A
gnomAD v2: 6-132211484-G-A
gnomAD v3: 6-131890344-G-A
gnomAD v4: 6-131890344-G-A
MyVariant Identifiers: chr6:g.132211484G>A (hg19) chr6:g.131890344G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890344G>A , CM000668.2:g.131890344G>A GRCh38
NC_000006.11:g.132211484G>A , CM000668.1:g.132211484G>A GRCh37
NC_000006.10:g.132253177G>A NCBI36
NG_008206.1:g.87329G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1042G>A
ENST00000647893.1:c.2611G>A MANE Select ENSP00000498074.1:p.Gly871Arg
ENST00000360971.6:c.2611G>A ENSP00000354238.2:p.Gly871Arg
ENST00000513998.5:c.*1448G>A ENSP00000422424.1:n.*1448G>A
NM_006208.2:c.2611G>A NP_006199.2:p.Gly871Arg
XM_011535896.1:c.1501G>A XP_011534198.1:p.Gly501Arg
NM_006208.3:c.2611G>A MANE Select NP_006199.2:p.Gly871Arg
Search 100 bp 5'
Search 100 bp 3'