Canonical Allele Identifier: CA365662115
Gene: ENPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851237T>C , CM000668.2:g.131851237T>C GRCh38
NC_000006.11:g.132172377T>C , CM000668.1:g.132172377T>C GRCh37
NC_000006.10:g.132214070T>C NCBI36
NG_008206.1:g.48222T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.526T>C MANE Select ENSP00000498074.1:p.Cys176Arg
ENST00000650147.1:c.204T>C
ENST00000650437.1:c.108+1131T>C
ENST00000360971.6:c.526T>C ENSP00000354238.2:p.Cys176Arg
ENST00000486853.1:n.546T>C
ENST00000513998.5:c.526T>C ENSP00000422424.1:p.Cys176Arg
NM_006208.2:c.526T>C NP_006199.2:p.Cys176Arg
NM_006208.3:c.526T>C MANE Select NP_006199.2:p.Cys176Arg