Canonical Allele Identifier: CA365662201

Gene: ENPP1

Linked Data

• gnomAD v4: 6-131851242-C-G
• MyVariant Identifiers: chr6:g.132172382C>G (hg19) ; chr6:g.131851242C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131851242C>G , CM000668.2:g.131851242C>G	GRCh38
NC_000006.11:g.132172382C>G , CM000668.1:g.132172382C>G	GRCh37
NC_000006.10:g.132214075C>G	NCBI36
NG_008206.1:g.48227C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.531C>G MANE Select	ENSP00000498074.1:p.Cys177Trp
ENST00000650147.1:c.209C>G
ENST00000650437.1:c.108+1136C>G
ENST00000360971.6:c.531C>G	ENSP00000354238.2:p.Cys177Trp
ENST00000486853.1:n.551C>G
ENST00000513998.5:c.531C>G	ENSP00000422424.1:p.Cys177Trp
NM_006208.2:c.531C>G	NP_006199.2:p.Cys177Trp
NM_006208.3:c.531C>G MANE Select	NP_006199.2:p.Cys177Trp