Canonical Allele Identifier: CA397088290

Gene: APRT

Linked Data

• ClinVar Variation Id: 1387232
• ClinVar RCV Id: RCV001905985
• dbSNP Id: rs1909079702
• gnomAD v4: 16-88810452-A-G
• MyVariant Identifiers: chr16:g.88876860A>G (hg19) ; chr16:g.88810452A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810452A>G , CM000678.2:g.88810452A>G	GRCh38
NC_000016.9:g.88876860A>G , CM000678.1:g.88876860A>G	GRCh37
NC_000016.8:g.87404361A>G	NCBI36
NG_008013.1:g.6483T>C
NG_028266.1:g.11675A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378364.8:c.292T>C MANE Select	ENSP00000367615.3:p.Trp98Arg
ENST00000378364.7:c.292T>C	ENSP00000367615.3:p.Trp98Arg
ENST00000426324.6:c.292T>C	ENSP00000397007.2:p.Trp98Arg
ENST00000562464.1:n.332-304T>C
ENST00000563655.5:c.241-304T>C	ENSP00000456012.1:n.241-304T>C
ENST00000567391.5:c.188-304T>C	ENSP00000457964.1:n.188-304T>C
ENST00000567713.5:c.292T>C	ENSP00000455749.1:p.Trp98Arg
ENST00000568319.5:c.188-304T>C	ENSP00000456905.1:n.188-304T>C
ENST00000569616.1:c.290T>C
NM_000485.2:c.292T>C	NP_000476.1:p.Trp98Arg
NM_001030018.1:c.292T>C	NP_001025189.1:p.Trp98Arg
NM_000485.3:c.292T>C MANE Select	NP_000476.1:p.Trp98Arg
NM_001030018.2:c.292T>C	NP_001025189.1:p.Trp98Arg