Canonical Allele Identifier: CA1664283185
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1562188316
gnomAD v4: 6-131890531-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890531C>G , CM000668.2:g.131890531C>G GRCh38
NC_000006.11:g.132211671C>G , CM000668.1:g.132211671C>G GRCh37
NC_000006.10:g.132253364C>G NCBI36
NG_008206.1:g.87516C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1229C>G
ENST00000647893.1:c.*20C>G MANE Select ENSP00000498074.1:n.*20C>G
ENST00000360971.6:c.*20C>G ENSP00000354238.2:n.*20C>G
ENST00000513998.5:c.*1635C>G ENSP00000422424.1:n.*1635C>G
NM_006208.2:c.*20C>G NP_006199.2:n.*20C>G
XM_011535896.1:c.*20C>G XP_011534198.1:n.*20C>G
NM_006208.3:c.*20C>G MANE Select NP_006199.2:n.*20C>G
Search 100 bp 5'
Search 100 bp 3'