Canonical Allele Identifier: CA397086041

Gene: APRT

Linked Data

• gnomAD v4: 16-88809702-T-A
• MyVariant Identifiers: chr16:g.88876110T>A (hg19) ; chr16:g.88809702T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809702T>A , CM000678.2:g.88809702T>A	GRCh38
NC_000016.9:g.88876110T>A , CM000678.1:g.88876110T>A	GRCh37
NC_000016.8:g.87403611T>A	NCBI36
NG_008013.1:g.7233A>T
NG_028266.1:g.10925T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.539A>T MANE Select	ENSP00000367615.3:p.Glu180Val
ENST00000378364.7:c.539A>T	ENSP00000367615.3:p.Glu180Val
ENST00000426324.6:c.405A>T	ENSP00000397007.2:p.Ter135Cys
ENST00000563655.5:c.458A>T	ENSP00000456012.1:p.Glu153Val
ENST00000567057.5:n.204A>T
ENST00000567391.5:c.*213A>T	ENSP00000457964.1:n.*213A>T
ENST00000567713.5:c.322-167A>T	ENSP00000455749.1:n.322-167A>T
ENST00000568319.5:c.*79A>T	ENSP00000456905.1:n.*79A>T
ENST00000568575.1:n.468A>T
ENST00000569616.1:c.604A>T
NM_000485.2:c.539A>T	NP_000476.1:p.Glu180Val
NM_001030018.1:c.405A>T	NP_001025189.1:p.Ter135Cys
NM_000485.3:c.539A>T MANE Select	NP_000476.1:p.Glu180Val
NM_001030018.2:c.405A>T	NP_001025189.1:p.Ter135Cys