Canonical Allele Identifier: CA397088024

Gene: APRT

Linked Data

• COSMIC: COSM1679331 ; COSM1679332 ; COSM1679333
• MyVariant Identifiers: chr16:g.88876545C>A (hg19) ; chr16:g.88810137C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810137C>A , CM000678.2:g.88810137C>A	GRCh38
NC_000016.9:g.88876545C>A , CM000678.1:g.88876545C>A	GRCh37
NC_000016.8:g.87404046C>A	NCBI36
NG_008013.1:g.6798G>T
NG_028266.1:g.11360C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.333G>T MANE Select	ENSP00000367615.3:p.Glu111Asp
ENST00000378364.7:c.333G>T	ENSP00000367615.3:p.Glu111Asp
ENST00000426324.6:c.333G>T	ENSP00000397007.2:p.Glu111Asp
ENST00000562464.1:n.343G>T
ENST00000563655.5:c.252G>T	ENSP00000456012.1:p.Glu84Asp
ENST00000567057.5:n.132G>T
ENST00000567391.5:c.*7G>T	ENSP00000457964.1:n.*7G>T
ENST00000567713.5:c.321+286G>T	ENSP00000455749.1:n.321+286G>T
ENST00000568319.5:c.*7G>T	ENSP00000456905.1:n.*7G>T
ENST00000568575.1:n.262G>T
ENST00000569616.1:c.331G>T
NM_000485.2:c.333G>T	NP_000476.1:p.Glu111Asp
NM_001030018.1:c.333G>T	NP_001025189.1:p.Glu111Asp
NM_000485.3:c.333G>T MANE Select	NP_000476.1:p.Glu111Asp
NM_001030018.2:c.333G>T	NP_001025189.1:p.Glu111Asp