Canonical Allele Identifier: CA123290
Gene: ENPP1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.131860388G>T
GRCh37 chr6:g.132181528G>T
Revel Score:
ENST00000360971 0.980
gnomAD v3:
6:131860388 G / T
gnomAD v4:
chr6-131860388-G-T
Joint Max Group AF 0.00000126 (NFE)
Exomes Max Group AF 8.6e-7 (NFE)
ClinVar RCV:
RCV000014563
RCV000014564
ClinVar Variation:
13594
dbSNP:
121908248
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131860388G>T , CM000668.2:g.131860388G>T GRCh38
NC_000006.11:g.132181528G>T , CM000668.1:g.132181528G>T GRCh37
NC_000006.10:g.132223221G>T NCBI36
NG_008206.1:g.57373G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.797G>T MANE Select ENSP00000498074.1:p.Gly266Val
ENST00000650147.1:c.414G>T
ENST00000650437.1:c.288G>T
ENST00000360971.6:c.797G>T ENSP00000354238.2:p.Gly266Val
ENST00000513998.5:c.797G>T ENSP00000422424.1:p.Gly266Val
NM_006208.2:c.797G>T NP_006199.2:p.Gly266Val
NM_006208.3:c.797G>T MANE Select NP_006199.2:p.Gly266Val
Search 100 bp 5'
Search 100 bp 3'