Canonical Allele Identifier: CA8234493

Gene: APRT

Linked Data

• dbSNP Id: rs752166198
• ExAC: 16:88876887 G / A
• gnomAD v2: 16-88876887-G-A
• gnomAD v3: 16-88810479-G-A
• gnomAD v4: 16-88810479-G-A
• COSMIC: COSM4063530 ; COSM4063531 ; COSM4063532
• MyVariant Identifiers: chr16:g.88876887G>A (hg19) ; chr16:g.88810479G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810479G>A , CM000678.2:g.88810479G>A	GRCh38
NC_000016.9:g.88876887G>A , CM000678.1:g.88876887G>A	GRCh37
NC_000016.8:g.87404388G>A	NCBI36
NG_008013.1:g.6456C>T
NG_028266.1:g.11702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.265C>T MANE Select	ENSP00000367615.3:p.Arg89Trp
ENST00000378364.7:c.265C>T	ENSP00000367615.3:p.Arg89Trp
ENST00000426324.6:c.265C>T	ENSP00000397007.2:p.Arg89Trp
ENST00000562464.1:n.332-331C>T
ENST00000563655.5:c.241-331C>T	ENSP00000456012.1:n.241-331C>T
ENST00000567391.5:c.188-331C>T	ENSP00000457964.1:n.188-331C>T
ENST00000567713.5:c.265C>T	ENSP00000455749.1:p.Arg89Trp
ENST00000568319.5:c.188-331C>T	ENSP00000456905.1:n.188-331C>T
ENST00000569616.1:c.263C>T
NM_000485.2:c.265C>T	NP_000476.1:p.Arg89Trp
NM_001030018.1:c.265C>T	NP_001025189.1:p.Arg89Trp
NM_000485.3:c.265C>T MANE Select	NP_000476.1:p.Arg89Trp
NM_001030018.2:c.265C>T	NP_001025189.1:p.Arg89Trp