Canonical Allele Identifier: CA256903
Gene: ENPP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13585
ClinVar RCV Id: RCV000014554
dbSNP Id: rs121918023

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890410G>T , CM000668.2:g.131890410G>T GRCh38
NC_000006.10:g.132253243G>T NCBI36
NC_000006.11:g.132211550G>T , CM000668.1:g.132211550G>T GRCh37
NG_008206.1:g.87395G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360971.6:c.2677G>T ENSP00000354238.2:p.Glu893Ter
ENST00000513998.5:c.*1514G>T ENSP00000422424.1:p.=
NM_006208.2:c.2677G>T NP_006199.2:p.Glu893Ter
XM_011535896.1:c.1567G>T XP_011534198.1:p.Glu523Ter