Canonical Allele Identifier: CA2680366295

Gene: ENPP1

Linked Data

• gnomAD v4: 6-131851025-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131851025C>T , CM000668.2:g.131851025C>T	GRCh38
NC_000006.11:g.132172165C>T , CM000668.1:g.132172165C>T	GRCh37
NC_000006.10:g.132213858C>T	NCBI36
NG_008206.1:g.48010C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.431-117C>T MANE Select	ENSP00000498074.1:n.431-117C>T
ENST00000650147.1:c.109-117C>T
ENST00000650437.1:c.108+919C>T
ENST00000360971.6:c.431-117C>T	ENSP00000354238.2:n.431-117C>T
ENST00000486853.1:n.451-117C>T
ENST00000513998.5:c.431-117C>T	ENSP00000422424.1:n.431-117C>T
NM_006208.2:c.431-117C>T	NP_006199.2:n.431-117C>T
NM_006208.3:c.431-117C>T MANE Select	NP_006199.2:n.431-117C>T