Canonical Allele Identifier: CA8234455

Gene: APRT

Linked Data

• dbSNP Id: rs368375344
• ExAC: 16:88876553 C / T
• gnomAD v2: 16-88876553-C-T
• gnomAD v4: 16-88810145-C-T
• MyVariant Identifiers: chr16:g.88876553C>T (hg19) ; chr16:g.88810145C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810145C>T , CM000678.2:g.88810145C>T	GRCh38
NC_000016.9:g.88876553C>T , CM000678.1:g.88876553C>T	GRCh37
NC_000016.8:g.87404054C>T	NCBI36
NG_008013.1:g.6790G>A
NG_028266.1:g.11368C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378364.8:c.325G>A MANE Select	ENSP00000367615.3:p.Glu109Lys
ENST00000378364.7:c.325G>A	ENSP00000367615.3:p.Glu109Lys
ENST00000426324.6:c.325G>A	ENSP00000397007.2:p.Glu109Lys
ENST00000562464.1:n.335G>A
ENST00000563655.5:c.244G>A	ENSP00000456012.1:p.Glu82Lys
ENST00000567057.5:n.124G>A
ENST00000567391.5:c.191G>A	ENSP00000457964.1:p.Ter64=
ENST00000567713.5:c.321+278G>A	ENSP00000455749.1:n.321+278G>A
ENST00000568319.5:c.191G>A	ENSP00000456905.1:p.Ter64=
ENST00000568575.1:n.254G>A
ENST00000569616.1:c.323G>A
NM_000485.2:c.325G>A	NP_000476.1:p.Glu109Lys
NM_001030018.1:c.325G>A	NP_001025189.1:p.Glu109Lys
NM_000485.3:c.325G>A MANE Select	NP_000476.1:p.Glu109Lys
NM_001030018.2:c.325G>A	NP_001025189.1:p.Glu109Lys