Canonical Allele Identifier: CA452154655

Gene: ENPP1

Linked Data

• gnomAD v4: 6-131851245-C-T
• MyVariant Identifiers: chr6:g.132172385C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131851245C>T , CM000668.2:g.131851245C>T	GRCh38
NC_000006.11:g.132172385C>T , CM000668.1:g.132172385C>T	GRCh37
NC_000006.10:g.132214078C>T	NCBI36
NG_008206.1:g.48230C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647893.1:c.534C>T MANE Select	ENSP00000498074.1:p.Ile178=
ENST00000650147.1:c.212C>T
ENST00000650437.1:c.108+1139C>T
ENST00000360971.6:c.534C>T	ENSP00000354238.2:p.Ile178=
ENST00000486853.1:n.554C>T
ENST00000513998.5:c.534C>T	ENSP00000422424.1:p.Ile178=
NM_006208.2:c.534C>T	NP_006199.2:p.Ile178=
NM_006208.3:c.534C>T MANE Select	NP_006199.2:p.Ile178=