Canonical Allele Identifier: CA1094555005
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs200746177
gnomAD v3: 6-131851119-A-C
gnomAD v4: 6-131851119-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851119A>C , CM000668.2:g.131851119A>C GRCh38
NC_000006.11:g.132172259A>C , CM000668.1:g.132172259A>C GRCh37
NC_000006.10:g.132213952A>C NCBI36
NG_008206.1:g.48104A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.431-23A>C MANE Select ENSP00000498074.1:n.431-23A>C
ENST00000650147.1:c.109-23A>C
ENST00000650437.1:c.108+1013A>C
ENST00000360971.6:c.431-23A>C ENSP00000354238.2:n.431-23A>C
ENST00000486853.1:n.451-23A>C
ENST00000513998.5:c.431-23A>C ENSP00000422424.1:n.431-23A>C
NM_006208.2:c.431-23A>C NP_006199.2:n.431-23A>C
NM_006208.3:c.431-23A>C MANE Select NP_006199.2:n.431-23A>C
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