Canonical Allele Identifier: CA4001920

Gene: ENPP1

Linked Data

• ClinVar Variation Id: 2331323
• ClinVar RCV Id: RCV002940248 ; RCV003108196 ; RCV003928912
• dbSNP Id: rs142001296
• ExAC: 6:132172374 G / A
• gnomAD v2: 6-132172374-G-A
• gnomAD v3: 6-131851234-G-A
• gnomAD v4: 6-131851234-G-A
• MyVariant Identifiers: chr6:g.132172374G>A (hg19) ; chr6:g.131851234G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131851234G>A , CM000668.2:g.131851234G>A	GRCh38
NC_000006.11:g.132172374G>A , CM000668.1:g.132172374G>A	GRCh37
NC_000006.10:g.132214067G>A	NCBI36
NG_008206.1:g.48219G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647893.1:c.523G>A MANE Select	ENSP00000498074.1:p.Asp175Asn
ENST00000650147.1:c.201G>A
ENST00000650437.1:c.108+1128G>A
ENST00000360971.6:c.523G>A	ENSP00000354238.2:p.Asp175Asn
ENST00000486853.1:n.543G>A
ENST00000513998.5:c.523G>A	ENSP00000422424.1:p.Asp175Asn
NM_006208.2:c.523G>A	NP_006199.2:p.Asp175Asn
NM_006208.3:c.523G>A MANE Select	NP_006199.2:p.Asp175Asn