Canonical Allele Identifier: CA147926103
Gene: ENPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1264864
ClinVar RCV Id: RCV001677109
dbSNP Id: rs76925655
gnomAD v2: 6-132172187-T-C
gnomAD v3: 6-131851047-T-C
gnomAD v4: 6-131851047-T-C
MyVariant Identifiers: chr6:g.132172187T>C (hg19) chr6:g.131851047T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851047T>C , CM000668.2:g.131851047T>C GRCh38
NC_000006.11:g.132172187T>C , CM000668.1:g.132172187T>C GRCh37
NC_000006.10:g.132213880T>C NCBI36
NG_008206.1:g.48032T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.431-95T>C MANE Select ENSP00000498074.1:n.431-95T>C
ENST00000650147.1:c.109-95T>C
ENST00000650437.1:c.108+941T>C
ENST00000360971.6:c.431-95T>C ENSP00000354238.2:n.431-95T>C
ENST00000486853.1:n.451-95T>C
ENST00000513998.5:c.431-95T>C ENSP00000422424.1:n.431-95T>C
NM_006208.2:c.431-95T>C NP_006199.2:n.431-95T>C
NM_006208.3:c.431-95T>C MANE Select NP_006199.2:n.431-95T>C
Search 100 bp 5'
Search 100 bp 3'