Canonical Allele Identifier: CA147908776
Gene: ENPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 907458
ClinVar RCV Id: RCV001157321 RCV001157322
dbSNP Id: rs934807026
gnomAD v3: 6-131890614-A-G
gnomAD v4: 6-131890614-A-G
MyVariant Identifiers: chr6:g.132211754A>G (hg19) chr6:g.131890614A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890614A>G , CM000668.2:g.131890614A>G GRCh38
NC_000006.11:g.132211754A>G , CM000668.1:g.132211754A>G GRCh37
NC_000006.10:g.132253447A>G NCBI36
NG_008206.1:g.87599A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1312A>G
ENST00000647893.1:c.*103A>G MANE Select ENSP00000498074.1:n.*103A>G
ENST00000360971.6:c.*103A>G ENSP00000354238.2:n.*103A>G
ENST00000513998.5:c.*1718A>G ENSP00000422424.1:n.*1718A>G
NM_006208.2:c.*103A>G NP_006199.2:n.*103A>G
XM_011535896.1:c.*103A>G XP_011534198.1:n.*103A>G
NM_006208.3:c.*103A>G MANE Select NP_006199.2:n.*103A>G
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