Canonical Allele Identifier: CA365662154
Gene: ENPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851240T>A , CM000668.2:g.131851240T>A GRCh38
NC_000006.11:g.132172380T>A , CM000668.1:g.132172380T>A GRCh37
NC_000006.10:g.132214073T>A NCBI36
NG_008206.1:g.48225T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.529T>A MANE Select ENSP00000498074.1:p.Cys177Ser
ENST00000650147.1:c.207T>A
ENST00000650437.1:c.108+1134T>A
ENST00000360971.6:c.529T>A ENSP00000354238.2:p.Cys177Ser
ENST00000486853.1:n.549T>A
ENST00000513998.5:c.529T>A ENSP00000422424.1:p.Cys177Ser
NM_006208.2:c.529T>A NP_006199.2:p.Cys177Ser
NM_006208.3:c.529T>A MANE Select NP_006199.2:p.Cys177Ser