Canonical Allele Identifier: CA497083685

Gene: APRT

Linked Data

• gnomAD v4: 16-88809701-C-T
• MyVariant Identifiers: chr16:g.88876109C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809701C>T , CM000678.2:g.88809701C>T	GRCh38
NC_000016.9:g.88876109C>T , CM000678.1:g.88876109C>T	GRCh37
NC_000016.8:g.87403610C>T	NCBI36
NG_008013.1:g.7234G>A
NG_028266.1:g.10924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.540G>A MANE Select	ENSP00000367615.3:p.Glu180=
ENST00000378364.7:c.540G>A	ENSP00000367615.3:p.Glu180=
ENST00000426324.6:c.*1G>A	ENSP00000397007.2:n.*1G>A
ENST00000563655.5:c.459G>A	ENSP00000456012.1:p.Glu153=
ENST00000567057.5:n.205G>A
ENST00000567391.5:c.*214G>A	ENSP00000457964.1:n.*214G>A
ENST00000567713.5:c.322-166G>A	ENSP00000455749.1:n.322-166G>A
ENST00000568319.5:c.*80G>A	ENSP00000456905.1:n.*80G>A
ENST00000568575.1:n.469G>A
ENST00000569616.1:c.605G>A
NM_000485.2:c.540G>A	NP_000476.1:p.Glu180=
NM_001030018.1:c.*1G>A	NP_001025189.1:n.*1G>A
NM_000485.3:c.540G>A MANE Select	NP_000476.1:p.Glu180=
NM_001030018.2:c.*1G>A	NP_001025189.1:n.*1G>A