Canonical Allele Identifier: CA2241308147
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810140C= , CM000678.2:g.88810140C= GRCh38
NC_000016.9:g.88876548C= , CM000678.1:g.88876548C= GRCh37
NC_000016.8:g.87404049C= NCBI36
NG_008013.1:g.6795G=
NG_028266.1:g.11363C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.330G= MANE Select ENSP00000367615.3:p.Leu110=
ENST00000378364.7:c.330G= ENSP00000367615.3:p.Leu110=
ENST00000426324.6:c.330G= ENSP00000397007.2:p.Leu110=
ENST00000562464.1:n.340G=
ENST00000563655.5:c.249G= ENSP00000456012.1:p.Leu83=
ENST00000567057.5:n.129G=
ENST00000567391.5:c.*4G= ENSP00000457964.1:n.*4G=
ENST00000567713.5:c.321+283G= ENSP00000455749.1:n.321+283G=
ENST00000568319.5:c.*4G= ENSP00000456905.1:n.*4G=
ENST00000568575.1:n.259G=
ENST00000569616.1:c.328G=
NM_000485.2:c.330G= NP_000476.1:p.Leu110=
NM_001030018.1:c.330G= NP_001025189.1:p.Leu110=
NM_000485.3:c.330G= MANE Select NP_000476.1:p.Leu110=
NM_001030018.2:c.330G= NP_001025189.1:p.Leu110=