Canonical Allele Identifier: CA397087852

Gene: APRT

Linked Data

• dbSNP Id: rs747315064
• gnomAD v2: 16-88876515-C-G
• gnomAD v4: 16-88810107-C-G
• COSMIC: COSM6145769 ; COSM6145770 ; COSM6145771
• MyVariant Identifiers: chr16:g.88876515C>G (hg19) ; chr16:g.88810107C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810107C>G , CM000678.2:g.88810107C>G	GRCh38
NC_000016.9:g.88876515C>G , CM000678.1:g.88876515C>G	GRCh37
NC_000016.8:g.87404016C>G	NCBI36
NG_008013.1:g.6828G>C
NG_028266.1:g.11330C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.363G>C MANE Select	ENSP00000367615.3:p.Gln121His
ENST00000378364.7:c.363G>C	ENSP00000367615.3:p.Gln121His
ENST00000426324.6:c.363G>C	ENSP00000397007.2:p.Gln121His
ENST00000562464.1:n.373G>C
ENST00000563655.5:c.282G>C	ENSP00000456012.1:p.Gln94His
ENST00000567057.5:n.162G>C
ENST00000567391.5:c.*37G>C	ENSP00000457964.1:n.*37G>C
ENST00000567713.5:c.321+316G>C	ENSP00000455749.1:n.321+316G>C
ENST00000568319.5:c.*37G>C	ENSP00000456905.1:n.*37G>C
ENST00000568575.1:n.292G>C
ENST00000569616.1:c.361G>C
NM_000485.2:c.363G>C	NP_000476.1:p.Gln121His
NM_001030018.1:c.363G>C	NP_001025189.1:p.Gln121His
NM_000485.3:c.363G>C MANE Select	NP_000476.1:p.Gln121His
NM_001030018.2:c.363G>C	NP_001025189.1:p.Gln121His