Canonical Allele Identifier: CA4001903
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs780271011
ExAC: 6:132172234 A / G
gnomAD v2: 6-132172234-A-G
gnomAD v3: 6-131851094-A-G
gnomAD v4: 6-131851094-A-G
MyVariant Identifiers: chr6:g.132172234A>G (hg19) chr6:g.131851094A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851094A>G , CM000668.2:g.131851094A>G GRCh38
NC_000006.11:g.132172234A>G , CM000668.1:g.132172234A>G GRCh37
NC_000006.10:g.132213927A>G NCBI36
NG_008206.1:g.48079A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.431-48A>G MANE Select ENSP00000498074.1:n.431-48A>G
ENST00000650147.1:c.109-48A>G
ENST00000650437.1:c.108+988A>G
ENST00000360971.6:c.431-48A>G ENSP00000354238.2:n.431-48A>G
ENST00000486853.1:n.451-48A>G
ENST00000513998.5:c.431-48A>G ENSP00000422424.1:n.431-48A>G
NM_006208.2:c.431-48A>G NP_006199.2:n.431-48A>G
NM_006208.3:c.431-48A>G MANE Select NP_006199.2:n.431-48A>G
Search 100 bp 5'
Search 100 bp 3'