Canonical Allele Identifier: CA8234496
Community Standard Title: NM_000485.3(APRT):c.259C>T (p.Arg87Ter)
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810485G>A , CM000678.2:g.88810485G>A GRCh38
NC_000016.9:g.88876893G>A , CM000678.1:g.88876893G>A GRCh37
NC_000016.8:g.87404394G>A NCBI36
NG_008013.1:g.6450C>T
NG_028266.1:g.11708G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000485.3:c.259C>T MANE Select NP_000476.1:p.Arg87Ter
ENST00000378364.8:c.259C>T MANE Select ENSP00000367615.3:p.Arg87Ter
NM_000485.2:c.259C>T NP_000476.1:p.Arg87Ter
NM_001030018.1:c.259C>T NP_001025189.1:p.Arg87Ter
NM_001030018.2:c.259C>T NP_001025189.1:p.Arg87Ter
ENST00000378364.7:c.259C>T ENSP00000367615.3:p.Arg87Ter
ENST00000426324.6:c.259C>T ENSP00000397007.2:p.Arg87Ter
ENST00000562464.1:n.332-337C>T
ENST00000563655.5:c.241-337C>T ENSP00000456012.1:n.241-337C>T
ENST00000567391.5:c.188-337C>T ENSP00000457964.1:n.188-337C>T
ENST00000567713.5:c.259C>T ENSP00000455749.1:p.Arg87Ter
ENST00000568319.5:c.188-337C>T ENSP00000456905.1:n.188-337C>T
ENST00000569616.1:c.257C>T