Canonical Allele Identifier: CA4001932
Gene: ENPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1921567
ClinVar RCV Id: RCV002608984
dbSNP Id: rs760395121
ExAC: 6:132172424 G / T
gnomAD v2: 6-132172424-G-T
gnomAD v3: 6-131851284-G-T
gnomAD v4: 6-131851284-G-T
MyVariant Identifiers: chr6:g.132172424G>T (hg19) chr6:g.131851284G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851284G>T , CM000668.2:g.131851284G>T GRCh38
NC_000006.11:g.132172424G>T , CM000668.1:g.132172424G>T GRCh37
NC_000006.10:g.132214117G>T NCBI36
NG_008206.1:g.48269G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.556+17G>T MANE Select ENSP00000498074.1:n.556+17G>T
ENST00000650147.1:c.234+17G>T
ENST00000650437.1:c.108+1178G>T
ENST00000360971.6:c.556+17G>T ENSP00000354238.2:n.556+17G>T
ENST00000486853.1:n.593G>T
ENST00000513998.5:c.556+17G>T ENSP00000422424.1:n.556+17G>T
NM_006208.2:c.556+17G>T NP_006199.2:n.556+17G>T
NM_006208.3:c.556+17G>T MANE Select NP_006199.2:n.556+17G>T
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