Canonical Allele Identifier: CA365662375
Gene: ENPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851261T>G , CM000668.2:g.131851261T>G GRCh38
NC_000006.11:g.132172401T>G , CM000668.1:g.132172401T>G GRCh37
NC_000006.10:g.132214094T>G NCBI36
NG_008206.1:g.48246T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.550T>G MANE Select ENSP00000498074.1:p.Cys184Gly
ENST00000650147.1:c.228T>G
ENST00000650437.1:c.108+1155T>G
ENST00000360971.6:c.550T>G ENSP00000354238.2:p.Cys184Gly
ENST00000486853.1:n.570T>G
ENST00000513998.5:c.550T>G ENSP00000422424.1:p.Cys184Gly
NM_006208.2:c.550T>G NP_006199.2:p.Cys184Gly
NM_006208.3:c.550T>G MANE Select NP_006199.2:p.Cys184Gly