Canonical Allele Identifier: CA365667448
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs121908248
gnomAD v3: 6-131860388-G-C
gnomAD v4: 6-131860388-G-C
MyVariant Identifiers: chr6:g.132181528G>C (hg19) chr6:g.131860388G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131860388G>C , CM000668.2:g.131860388G>C GRCh38
NC_000006.11:g.132181528G>C , CM000668.1:g.132181528G>C GRCh37
NC_000006.10:g.132223221G>C NCBI36
NG_008206.1:g.57373G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647893.1:c.797G>C MANE Select ENSP00000498074.1:p.Gly266Ala
ENST00000650147.1:c.414G>C
ENST00000650437.1:c.288G>C
ENST00000360971.6:c.797G>C ENSP00000354238.2:p.Gly266Ala
ENST00000513998.5:c.797G>C ENSP00000422424.1:p.Gly266Ala
NM_006208.2:c.797G>C NP_006199.2:p.Gly266Ala
NM_006208.3:c.797G>C MANE Select NP_006199.2:p.Gly266Ala
Search 100 bp 5'
Search 100 bp 3'