Canonical Allele Identifier: CA1139664909

Gene: APRT

Linked Data

• ClinVar Variation Id: 988042
• ClinVar RCV Id: RCV001269434
• dbSNP Id: rs766646831

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810559G>C , CM000678.2:g.88810559G>C	GRCh38
NC_000016.9:g.88876967G>C , CM000678.1:g.88876967G>C	GRCh37
NC_000016.8:g.87404468G>C	NCBI36
NG_008013.1:g.6376C>G
NG_028266.1:g.11782G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.188-3C>G MANE Select	ENSP00000367615.3:n.188-3C>G
ENST00000378364.7:c.188-3C>G	ENSP00000367615.3:n.188-3C>G
ENST00000426324.6:c.188-3C>G	ENSP00000397007.2:n.188-3C>G
ENST00000562464.1:n.332-411C>G
ENST00000563655.5:c.241-411C>G	ENSP00000456012.1:n.241-411C>G
ENST00000567391.5:c.188-411C>G	ENSP00000457964.1:n.188-411C>G
ENST00000567713.5:c.188-3C>G	ENSP00000455749.1:n.188-3C>G
ENST00000568319.5:c.188-411C>G	ENSP00000456905.1:n.188-411C>G
ENST00000569616.1:c.186-3C>G
NM_000485.2:c.188-3C>G	NP_000476.1:n.188-3C>G
NM_001030018.1:c.188-3C>G	NP_001025189.1:n.188-3C>G
NM_000485.3:c.188-3C>G MANE Select	NP_000476.1:n.188-3C>G
NM_001030018.2:c.188-3C>G	NP_001025189.1:n.188-3C>G