Canonical Allele Identifier: CA397087840

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876513C>G (hg19) ; chr16:g.88810105C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810105C>G , CM000678.2:g.88810105C>G	GRCh38
NC_000016.9:g.88876513C>G , CM000678.1:g.88876513C>G	GRCh37
NC_000016.8:g.87404014C>G	NCBI36
NG_008013.1:g.6830G>C
NG_028266.1:g.11328C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.365G>C MANE Select	ENSP00000367615.3:p.Arg122Thr
ENST00000378364.7:c.365G>C	ENSP00000367615.3:p.Arg122Thr
ENST00000426324.6:c.365G>C	ENSP00000397007.2:p.Arg122Thr
ENST00000562464.1:n.375G>C
ENST00000563655.5:c.284G>C	ENSP00000456012.1:p.Arg95Thr
ENST00000567057.5:n.164G>C
ENST00000567391.5:c.*39G>C	ENSP00000457964.1:n.*39G>C
ENST00000567713.5:c.321+318G>C	ENSP00000455749.1:n.321+318G>C
ENST00000568319.5:c.*39G>C	ENSP00000456905.1:n.*39G>C
ENST00000568575.1:n.294G>C
ENST00000569616.1:c.363G>C
NM_000485.2:c.365G>C	NP_000476.1:p.Arg122Thr
NM_001030018.1:c.365G>C	NP_001025189.1:p.Arg122Thr
NM_000485.3:c.365G>C MANE Select	NP_000476.1:p.Arg122Thr
NM_001030018.2:c.365G>C	NP_001025189.1:p.Arg122Thr