Canonical Allele Identifier: CA397087967

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876534T>A (hg19) ; chr16:g.88810126T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810126T>A , CM000678.2:g.88810126T>A	GRCh38
NC_000016.9:g.88876534T>A , CM000678.1:g.88876534T>A	GRCh37
NC_000016.8:g.87404035T>A	NCBI36
NG_008013.1:g.6809A>T
NG_028266.1:g.11349T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.344A>T MANE Select	ENSP00000367615.3:p.Asp115Val
ENST00000378364.7:c.344A>T	ENSP00000367615.3:p.Asp115Val
ENST00000426324.6:c.344A>T	ENSP00000397007.2:p.Asp115Val
ENST00000562464.1:n.354A>T
ENST00000563655.5:c.263A>T	ENSP00000456012.1:p.Asp88Val
ENST00000567057.5:n.143A>T
ENST00000567391.5:c.*18A>T	ENSP00000457964.1:n.*18A>T
ENST00000567713.5:c.321+297A>T	ENSP00000455749.1:n.321+297A>T
ENST00000568319.5:c.*18A>T	ENSP00000456905.1:n.*18A>T
ENST00000568575.1:n.273A>T
ENST00000569616.1:c.342A>T
NM_000485.2:c.344A>T	NP_000476.1:p.Asp115Val
NM_001030018.1:c.344A>T	NP_001025189.1:p.Asp115Val
NM_000485.3:c.344A>T MANE Select	NP_000476.1:p.Asp115Val
NM_001030018.2:c.344A>T	NP_001025189.1:p.Asp115Val