Canonical Allele Identifier: CA258148
Gene: APRT HGNC NCBI

Linked Data

ClinVar Variation Id: 18300
ClinVar RCV Id: RCV000019962
dbSNP Id: rs104894508

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810141A>G , CM000678.2:g.88810141A>G GRCh38
NC_000016.9:g.88876549A>G , CM000678.1:g.88876549A>G GRCh37
NC_000016.8:g.87404050A>G NCBI36
NG_008013.1:g.6794T>C
NG_028266.1:g.11364A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.329T>C MANE Select ENSP00000367615.3:p.Leu110Pro
ENST00000378364.7:c.329T>C ENSP00000367615.3:p.Leu110Pro
ENST00000426324.6:c.329T>C ENSP00000397007.2:p.Leu110Pro
ENST00000562464.1:n.339T>C
ENST00000563655.5:c.248T>C ENSP00000456012.1:p.Leu83Pro
ENST00000567057.5:n.128T>C
ENST00000567391.5:c.*3T>C ENSP00000457964.1:n.*3T>C
ENST00000567713.5:c.321+282T>C ENSP00000455749.1:n.321+282T>C
ENST00000568319.5:c.*3T>C ENSP00000456905.1:n.*3T>C
ENST00000568575.1:n.258T>C
ENST00000569616.1:c.327T>C
NM_000485.2:c.329T>C NP_000476.1:p.Leu110Pro
NM_001030018.1:c.329T>C NP_001025189.1:p.Leu110Pro
NM_000485.3:c.329T>C MANE Select NP_000476.1:p.Leu110Pro
NM_001030018.2:c.329T>C NP_001025189.1:p.Leu110Pro