Canonical Allele Identifier: CA4002057
Gene: ENPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2182913
ClinVar RCV Id: RCV002592262
dbSNP Id: rs771111562
ExAC: 6:132182761 C / A
gnomAD v2: 6-132182761-C-A
gnomAD v3: 6-131861621-C-A
gnomAD v4: 6-131861621-C-A
MyVariant Identifiers: chr6:g.132182761C>A (hg19) chr6:g.131861621C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131861621C>A , CM000668.2:g.131861621C>A GRCh38
NC_000006.11:g.132182761C>A , CM000668.1:g.132182761C>A GRCh37
NC_000006.10:g.132224454C>A NCBI36
NG_008206.1:g.58606C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.942C>A MANE Select ENSP00000498074.1:p.Gly314=
ENST00000650147.1:c.559C>A
ENST00000650437.1:c.433C>A
ENST00000360971.6:c.942C>A ENSP00000354238.2:p.Gly314=
ENST00000459624.1:n.12C>A
ENST00000513998.5:c.942C>A ENSP00000422424.1:p.Gly314=
NM_006208.2:c.942C>A NP_006199.2:p.Gly314=
NM_006208.3:c.942C>A MANE Select NP_006199.2:p.Gly314=
Search 100 bp 5'
Search 100 bp 3'