Canonical Allele Identifier: CA1664253764
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851255T= , CM000668.2:g.131851255T= GRCh38
NC_000006.11:g.132172395T= , CM000668.1:g.132172395T= GRCh37
NC_000006.10:g.132214088T= NCBI36
NG_008206.1:g.48240T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.544T= MANE Select ENSP00000498074.1:p.Ser182=
ENST00000650147.1:c.222T=
ENST00000650437.1:c.108+1149T=
ENST00000360971.6:c.544T= ENSP00000354238.2:p.Ser182=
ENST00000486853.1:n.564T=
ENST00000513998.5:c.544T= ENSP00000422424.1:p.Ser182=
NM_006208.2:c.544T= NP_006199.2:p.Ser182=
NM_006208.3:c.544T= MANE Select NP_006199.2:p.Ser182=