Canonical Allele Identifier: CA10604066
Gene: ENPP1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.131877024G>A
GRCh37 chr6:g.132198164G>A
Revel Score:
ENST00000360971 0.912
gnomAD v2:
6:132198164 G / A
gnomAD v3:
6:131877024 G / A
gnomAD v4:
chr6-131877024-G-A
Joint Max Group AF 0.00000443 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
ClinVar RCV:
RCV000022723
RCV000378449
ClinVar Variation:
282087
dbSNP:
777367269
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131877024G>A , CM000668.2:g.131877024G>A GRCh38
NC_000006.11:g.132198164G>A , CM000668.1:g.132198164G>A GRCh37
NC_000006.10:g.132239857G>A NCBI36
NG_008206.1:g.74009G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683687.1:n.628G>A
ENST00000684536.1:n.254G>A
ENST00000647893.1:c.1756G>A MANE Select ENSP00000498074.1:p.Gly586Arg
ENST00000647981.1:n.441G>A
ENST00000650437.1:c.1247G>A
ENST00000360971.6:c.1756G>A ENSP00000354238.2:p.Gly586Arg
ENST00000459624.1:n.800G>A
ENST00000513998.5:c.*593G>A ENSP00000422424.1:n.*593G>A
NM_006208.2:c.1756G>A NP_006199.2:p.Gly586Arg
XM_011535896.1:c.646G>A XP_011534198.1:p.Gly216Arg
NM_006208.3:c.1756G>A MANE Select NP_006199.2:p.Gly586Arg
Search 100 bp 5'
Search 100 bp 3'