Canonical Allele Identifier: CA397087624

Gene: APRT

Linked Data

• ClinVar Variation Id: 988063
• ClinVar RCV Id: RCV001269455
• dbSNP Id: rs1909056519
• MyVariant Identifiers: chr16:g.88876489A>G (hg19) ; chr16:g.88810081A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810081A>G , CM000678.2:g.88810081A>G	GRCh38
NC_000016.9:g.88876489A>G , CM000678.1:g.88876489A>G	GRCh37
NC_000016.8:g.87403990A>G	NCBI36
NG_008013.1:g.6854T>C
NG_028266.1:g.11304A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.389T>C MANE Select	ENSP00000367615.3:p.Leu130Pro
ENST00000378364.7:c.389T>C	ENSP00000367615.3:p.Leu130Pro
ENST00000426324.6:c.389T>C	ENSP00000397007.2:p.Leu130Pro
ENST00000562464.1:n.399T>C
ENST00000563655.5:c.308T>C	ENSP00000456012.1:p.Leu103Pro
ENST00000567057.5:n.188T>C
ENST00000567391.5:c.*63T>C	ENSP00000457964.1:n.*63T>C
ENST00000567713.5:c.321+342T>C	ENSP00000455749.1:n.321+342T>C
ENST00000568319.5:c.*63T>C	ENSP00000456905.1:n.*63T>C
ENST00000568575.1:n.318T>C
ENST00000569616.1:c.387T>C
NM_000485.2:c.389T>C	NP_000476.1:p.Leu130Pro
NM_001030018.1:c.389T>C	NP_001025189.1:p.Leu130Pro
NM_000485.3:c.389T>C MANE Select	NP_000476.1:p.Leu130Pro
NM_001030018.2:c.389T>C	NP_001025189.1:p.Leu130Pro