Canonical Allele Identifier: CA8234339

Gene: APRT

Linked Data

• ClinVar Variation Id: 988025
• ClinVar RCV Id: RCV001269417
• dbSNP Id: rs758634272
• ExAC: 16:88876108 A / G
• gnomAD v2: 16-88876108-A-G
• gnomAD v4: 16-88809700-A-G
• MyVariant Identifiers: chr16:g.88876108A>G (hg19) ; chr16:g.88809700A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809700A>G , CM000678.2:g.88809700A>G	GRCh38
NC_000016.9:g.88876108A>G , CM000678.1:g.88876108A>G	GRCh37
NC_000016.8:g.87403609A>G	NCBI36
NG_008013.1:g.7235T>C
NG_028266.1:g.10923A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.541T>C MANE Select	ENSP00000367615.3:p.Ter181Arg
ENST00000378364.7:c.541T>C	ENSP00000367615.3:p.Ter181Arg
ENST00000426324.6:c.*2T>C	ENSP00000397007.2:n.*2T>C
ENST00000563655.5:c.460T>C	ENSP00000456012.1:p.Ter154Arg
ENST00000567057.5:n.206T>C
ENST00000567391.5:c.*215T>C	ENSP00000457964.1:n.*215T>C
ENST00000567713.5:c.322-165T>C	ENSP00000455749.1:n.322-165T>C
ENST00000568319.5:c.*81T>C	ENSP00000456905.1:n.*81T>C
ENST00000568575.1:n.470T>C
ENST00000569616.1:c.606T>C
NM_000485.2:c.541T>C	NP_000476.1:p.Ter181Arg
NM_001030018.1:c.*2T>C	NP_001025189.1:n.*2T>C
NM_000485.3:c.541T>C MANE Select	NP_000476.1:p.Ter181Arg
NM_001030018.2:c.*2T>C	NP_001025189.1:n.*2T>C