Canonical Allele Identifier: CA365662098
Gene: ENPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131851235A>T , CM000668.2:g.131851235A>T GRCh38
NC_000006.11:g.132172375A>T , CM000668.1:g.132172375A>T GRCh37
NC_000006.10:g.132214068A>T NCBI36
NG_008206.1:g.48220A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.524A>T MANE Select ENSP00000498074.1:p.Asp175Val
ENST00000650147.1:c.202A>T
ENST00000650437.1:c.108+1129A>T
ENST00000360971.6:c.524A>T ENSP00000354238.2:p.Asp175Val
ENST00000486853.1:n.544A>T
ENST00000513998.5:c.524A>T ENSP00000422424.1:p.Asp175Val
NM_006208.2:c.524A>T NP_006199.2:p.Asp175Val
NM_006208.3:c.524A>T MANE Select NP_006199.2:p.Asp175Val