Canonical Allele Identifier: CA4002327

Gene: ENPP1

Linked Data

• ClinVar Variation Id: 2167357
• ClinVar RCV Id: RCV003086406
• dbSNP Id: rs777093714
• ExAC: 6:132198200 C / G
• gnomAD v2: 6-132198200-C-G
• gnomAD v4: 6-131877060-C-G
• MyVariant Identifiers: chr6:g.132198200C>G (hg19) ; chr6:g.131877060C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877060C>G , CM000668.2:g.131877060C>G	GRCh38
NC_000006.11:g.132198200C>G , CM000668.1:g.132198200C>G	GRCh37
NC_000006.10:g.132239893C>G	NCBI36
NG_008206.1:g.74045C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.664C>G
ENST00000684536.1:n.290C>G
ENST00000647893.1:c.1792C>G MANE Select	ENSP00000498074.1:p.Pro598Ala
ENST00000647981.1:n.477C>G
ENST00000650437.1:c.1283C>G
ENST00000360971.6:c.1792C>G	ENSP00000354238.2:p.Pro598Ala
ENST00000459624.1:n.836C>G
ENST00000513998.5:c.*629C>G	ENSP00000422424.1:n.*629C>G
NM_006208.2:c.1792C>G	NP_006199.2:p.Pro598Ala
XM_011535896.1:c.682C>G	XP_011534198.1:p.Pro228Ala
NM_006208.3:c.1792C>G MANE Select	NP_006199.2:p.Pro598Ala