Canonical Allele Identifier: CA4002332
Gene: ENPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2085789
ClinVar RCV Id: RCV003005242
dbSNP Id: rs199956400
ExAC: 6:132198211 G / A
gnomAD v2: 6-132198211-G-A
gnomAD v3: 6-131877071-G-A
gnomAD v4: 6-131877071-G-A
MyVariant Identifiers: chr6:g.132198211G>A (hg19) chr6:g.131877071G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131877071G>A , CM000668.2:g.131877071G>A GRCh38
NC_000006.11:g.132198211G>A , CM000668.1:g.132198211G>A GRCh37
NC_000006.10:g.132239904G>A NCBI36
NG_008206.1:g.74056G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683687.1:n.675G>A
ENST00000684536.1:n.301G>A
ENST00000647893.1:c.1803G>A MANE Select ENSP00000498074.1:p.Thr601=
ENST00000647981.1:n.488G>A
ENST00000650437.1:c.1294G>A
ENST00000360971.6:c.1803G>A ENSP00000354238.2:p.Thr601=
ENST00000459624.1:n.847G>A
ENST00000513998.5:c.*640G>A ENSP00000422424.1:n.*640G>A
NM_006208.2:c.1803G>A NP_006199.2:p.Thr601=
XM_011535896.1:c.693G>A XP_011534198.1:p.Thr231=
NM_006208.3:c.1803G>A MANE Select NP_006199.2:p.Thr601=
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