Canonical Allele Identifier: CA1664277021
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131877060C= , CM000668.2:g.131877060C= GRCh38
NC_000006.11:g.132198200C= , CM000668.1:g.132198200C= GRCh37
NC_000006.10:g.132239893C= NCBI36
NG_008206.1:g.74045C=

Transcript Alleles

HGVS Amino-acid change
ENST00000683687.1:n.664C=
ENST00000684536.1:n.290C=
ENST00000647893.1:c.1792C= MANE Select ENSP00000498074.1:p.Pro598=
ENST00000647981.1:n.477C=
ENST00000650437.1:c.1283C=
ENST00000360971.6:c.1792C= ENSP00000354238.2:p.Pro598=
ENST00000459624.1:n.836C=
ENST00000513998.5:c.*629C= ENSP00000422424.1:n.*629C=
NM_006208.2:c.1792C= NP_006199.2:p.Pro598=
XM_011535896.1:c.682C= XP_011534198.1:p.Pro228=
NM_006208.3:c.1792C= MANE Select NP_006199.2:p.Pro598=