Canonical Allele Identifier: CA4001798

Gene: ENPP1

Linked Data

• ClinVar Variation Id: 2418544
• ClinVar RCV Id: RCV003121293
• dbSNP Id: rs763240008
• ExAC: 6:132129293 C / A
• gnomAD v2: 6-132129293-C-A
• gnomAD v3: 6-131808153-C-A
• gnomAD v4: 6-131808153-C-A
• MyVariant Identifiers: chr6:g.132129293C>A (hg19) ; chr6:g.131808153C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131808153C>A , CM000668.2:g.131808153C>A	GRCh38
NC_000006.11:g.132129293C>A , CM000668.1:g.132129293C>A	GRCh37
NC_000006.10:g.132170986C>A	NCBI36
NG_008206.1:g.5138C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.118C>A MANE Select	ENSP00000498074.1:p.Pro40Thr
ENST00000650507.1:c.31C>A	ENSP00000497375.1:p.Pro11Thr
ENST00000360971.6:c.118C>A	ENSP00000354238.2:p.Pro40Thr
ENST00000486853.1:n.138C>A
ENST00000513998.5:c.118C>A	ENSP00000422424.1:p.Pro40Thr
NM_006208.2:c.118C>A	NP_006199.2:p.Pro40Thr
NM_006208.3:c.118C>A MANE Select	NP_006199.2:p.Pro40Thr