Canonical Allele Identifier: CA4001905
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs776319232
ExAC: 6:132172258 C / A
gnomAD v2: 6-132172258-C-A
gnomAD v4: 6-131851118-C-A
MyVariant Identifiers: chr6:g.132172258C>A (hg19) chr6:g.131851118C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851118C>A , CM000668.2:g.131851118C>A GRCh38
NC_000006.11:g.132172258C>A , CM000668.1:g.132172258C>A GRCh37
NC_000006.10:g.132213951C>A NCBI36
NG_008206.1:g.48103C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.431-24C>A MANE Select ENSP00000498074.1:n.431-24C>A
ENST00000650147.1:c.109-24C>A
ENST00000650437.1:c.108+1012C>A
ENST00000360971.6:c.431-24C>A ENSP00000354238.2:n.431-24C>A
ENST00000486853.1:n.451-24C>A
ENST00000513998.5:c.431-24C>A ENSP00000422424.1:n.431-24C>A
NM_006208.2:c.431-24C>A NP_006199.2:n.431-24C>A
NM_006208.3:c.431-24C>A MANE Select NP_006199.2:n.431-24C>A
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