Canonical Allele Identifier: CA8234364

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809802G>A , CM000678.2:g.88809802G>A	GRCh38
NC_000016.9:g.88876210G>A , CM000678.1:g.88876210G>A	GRCh37
NC_000016.8:g.87403711G>A	NCBI36
NG_008013.1:g.7133C>T
NG_028266.1:g.11025G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000485.3:c.439C>T MANE Select	NP_000476.1:p.Gln147Ter
ENST00000378364.8:c.439C>T MANE Select	ENSP00000367615.3:p.Gln147Ter
NM_000485.2:c.439C>T	NP_000476.1:p.Gln147Ter
NM_001030018.1:c.401-96C>T	NP_001025189.1:n.401-96C>T
NM_001030018.2:c.401-96C>T	NP_001025189.1:n.401-96C>T
ENST00000378364.7:c.439C>T	ENSP00000367615.3:p.Gln147Ter
ENST00000426324.6:c.401-96C>T	ENSP00000397007.2:n.401-96C>T
ENST00000562464.1:n.449C>T
ENST00000563655.5:c.358C>T	ENSP00000456012.1:p.Gln120Ter
ENST00000567057.5:n.200-96C>T
ENST00000567391.5:c.*113C>T	ENSP00000457964.1:n.*113C>T
ENST00000567713.5:c.322-267C>T	ENSP00000455749.1:n.322-267C>T
ENST00000568319.5:c.*75-96C>T	ENSP00000456905.1:n.*75-96C>T
ENST00000568575.1:n.368C>T
ENST00000569616.1:c.504C>T