Canonical Allele Identifier: CA725631088

Gene: APRT

Linked Data

• dbSNP Id: rs1329595314
• gnomAD v3: 16-88810303-C-A
• gnomAD v4: 16-88810303-C-A
• MyVariant Identifiers: chr16:g.88876711C>A (hg19) ; chr16:g.88810303C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810303C>A , CM000678.2:g.88810303C>A	GRCh38
NC_000016.9:g.88876711C>A , CM000678.1:g.88876711C>A	GRCh37
NC_000016.8:g.87404212C>A	NCBI36
NG_008013.1:g.6632G>T
NG_028266.1:g.11526C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.321+120G>T MANE Select	ENSP00000367615.3:n.321+120G>T
ENST00000378364.7:c.321+120G>T	ENSP00000367615.3:n.321+120G>T
ENST00000426324.6:c.321+120G>T	ENSP00000397007.2:n.321+120G>T
ENST00000562464.1:n.332-155G>T
ENST00000563655.5:c.241-155G>T	ENSP00000456012.1:n.241-155G>T
ENST00000567391.5:c.188-155G>T	ENSP00000457964.1:n.188-155G>T
ENST00000567713.5:c.321+120G>T	ENSP00000455749.1:n.321+120G>T
ENST00000568319.5:c.188-155G>T	ENSP00000456905.1:n.188-155G>T
ENST00000568575.1:n.96G>T
ENST00000569616.1:c.319+120G>T
NM_000485.2:c.321+120G>T	NP_000476.1:n.321+120G>T
NM_001030018.1:c.321+120G>T	NP_001025189.1:n.321+120G>T
NM_000485.3:c.321+120G>T MANE Select	NP_000476.1:n.321+120G>T
NM_001030018.2:c.321+120G>T	NP_001025189.1:n.321+120G>T