Canonical Allele Identifier: CA256906
Gene: ENPP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13591
ClinVar RCV Id: RCV000014560
dbSNP Id: rs121918025

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131861704G>T , CM000668.2:g.131861704G>T GRCh38
NC_000006.11:g.132182844G>T , CM000668.1:g.132182844G>T GRCh37
NC_000006.10:g.132224537G>T NCBI36
NG_008206.1:g.58689G>T

Transcript Alleles

HGVS Amino-acid change
NM_006208.2:c.1025G>T VV NP_006199.2:p.Gly342Val
NM_006208.3:c.1025G>T VV MANE Preferred
ENST00000360971.6:c.1025G>T ENSP00000354238.2:p.Gly342Val
ENST00000459624.1:n.95G>T
ENST00000513998.5:c.1025G>T ENSP00000422424.1:p.Gly342Val