Canonical Allele Identifier: CA397086030

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876106T>G (hg19) ; chr16:g.88809698T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809698T>G , CM000678.2:g.88809698T>G	GRCh38
NC_000016.9:g.88876106T>G , CM000678.1:g.88876106T>G	GRCh37
NC_000016.8:g.87403607T>G	NCBI36
NG_008013.1:g.7237A>C
NG_028266.1:g.10921T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.543A>C MANE Select	ENSP00000367615.3:p.Ter181Cys
ENST00000378364.7:c.543A>C	ENSP00000367615.3:p.Ter181Cys
ENST00000426324.6:c.*4A>C	ENSP00000397007.2:n.*4A>C
ENST00000563655.5:c.462A>C	ENSP00000456012.1:p.Ter154Cys
ENST00000567057.5:n.208A>C
ENST00000567391.5:c.*217A>C	ENSP00000457964.1:n.*217A>C
ENST00000567713.5:c.322-163A>C	ENSP00000455749.1:n.322-163A>C
ENST00000568319.5:c.*83A>C	ENSP00000456905.1:n.*83A>C
ENST00000568575.1:n.472A>C
ENST00000569616.1:c.608A>C
NM_000485.2:c.543A>C	NP_000476.1:p.Ter181Cys
NM_001030018.1:c.*4A>C	NP_001025189.1:n.*4A>C
NM_000485.3:c.543A>C MANE Select	NP_000476.1:p.Ter181Cys
NM_001030018.2:c.*4A>C	NP_001025189.1:n.*4A>C