Canonical Allele Identifier: CA1094561859
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1782455654
gnomAD v3: 6-131890541-C-G
gnomAD v4: 6-131890541-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890541C>G , CM000668.2:g.131890541C>G GRCh38
NC_000006.11:g.132211681C>G , CM000668.1:g.132211681C>G GRCh37
NC_000006.10:g.132253374C>G NCBI36
NG_008206.1:g.87526C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1239C>G
ENST00000647893.1:c.*30C>G MANE Select ENSP00000498074.1:n.*30C>G
ENST00000360971.6:c.*30C>G ENSP00000354238.2:n.*30C>G
ENST00000513998.5:c.*1645C>G ENSP00000422424.1:n.*1645C>G
NM_006208.2:c.*30C>G NP_006199.2:n.*30C>G
XM_011535896.1:c.*30C>G XP_011534198.1:n.*30C>G
NM_006208.3:c.*30C>G MANE Select NP_006199.2:n.*30C>G
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