Canonical Allele Identifier: CA4002341
Gene: ENPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2918456
ClinVar RCV Id: RCV003739042
dbSNP Id: rs745545857
ExAC: 6:132198263 A / G
gnomAD v2: 6-132198263-A-G
gnomAD v3: 6-131877123-A-G
gnomAD v4: 6-131877123-A-G
MyVariant Identifiers: chr6:g.132198263A>G (hg19) chr6:g.131877123A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131877123A>G , CM000668.2:g.131877123A>G GRCh38
NC_000006.11:g.132198263A>G , CM000668.1:g.132198263A>G GRCh37
NC_000006.10:g.132239956A>G NCBI36
NG_008206.1:g.74108A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000683687.1:n.727A>G
ENST00000684536.1:n.353A>G
ENST00000647893.1:c.1855A>G MANE Select ENSP00000498074.1:p.Asn619Asp
ENST00000647981.1:n.540A>G
ENST00000650437.1:c.1346A>G
ENST00000360971.6:c.1855A>G ENSP00000354238.2:p.Asn619Asp
ENST00000459624.1:n.899A>G
ENST00000513998.5:c.*692A>G ENSP00000422424.1:n.*692A>G
NM_006208.2:c.1855A>G NP_006199.2:p.Asn619Asp
XM_011535896.1:c.745A>G XP_011534198.1:p.Asn249Asp
NM_006208.3:c.1855A>G MANE Select NP_006199.2:p.Asn619Asp
Search 100 bp 5'
Search 100 bp 3'