Canonical Allele Identifier: CA365661393
Gene: ENPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890488C>G , CM000668.2:g.131890488C>G GRCh38
NC_000006.11:g.132211628C>G , CM000668.1:g.132211628C>G GRCh37
NC_000006.10:g.132253321C>G NCBI36
NG_008206.1:g.87473C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1186C>G
ENST00000647893.1:c.2755C>G MANE Select ENSP00000498074.1:p.Pro919Ala
ENST00000360971.6:c.2755C>G ENSP00000354238.2:p.Pro919Ala
ENST00000513998.5:c.*1592C>G ENSP00000422424.1:n.*1592C>G
NM_006208.2:c.2755C>G NP_006199.2:p.Pro919Ala
XM_011535896.1:c.1645C>G XP_011534198.1:p.Pro549Ala
NM_006208.3:c.2755C>G MANE Select NP_006199.2:p.Pro919Ala