Canonical Allele Identifier: CA2680367226
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs924278790
gnomAD v4: 6-131861522-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131861522G>T , CM000668.2:g.131861522G>T GRCh38
NC_000006.11:g.132182662G>T , CM000668.1:g.132182662G>T GRCh37
NC_000006.10:g.132224355G>T NCBI36
NG_008206.1:g.58507G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.916-73G>T MANE Select ENSP00000498074.1:n.916-73G>T
ENST00000650147.1:c.533-73G>T
ENST00000650437.1:c.407-73G>T
ENST00000360971.6:c.916-73G>T ENSP00000354238.2:n.916-73G>T
ENST00000513998.5:c.916-73G>T ENSP00000422424.1:n.916-73G>T
NM_006208.2:c.916-73G>T NP_006199.2:n.916-73G>T
NM_006208.3:c.916-73G>T MANE Select NP_006199.2:n.916-73G>T
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