Canonical Allele Identifier: CA286425733

Gene: APRT

Linked Data

• dbSNP Id: rs543205392
• gnomAD v3: 16-88810268-T-G
• gnomAD v4: 16-88810268-T-G
• MyVariant Identifiers: chr16:g.88876676T>G (hg19) ; chr16:g.88810268T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810268T>G , CM000678.2:g.88810268T>G	GRCh38
NC_000016.9:g.88876676T>G , CM000678.1:g.88876676T>G	GRCh37
NC_000016.8:g.87404177T>G	NCBI36
NG_008013.1:g.6667A>C
NG_028266.1:g.11491T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.322-120A>C MANE Select	ENSP00000367615.3:n.322-120A>C
ENST00000378364.7:c.322-120A>C	ENSP00000367615.3:n.322-120A>C
ENST00000426324.6:c.322-120A>C	ENSP00000397007.2:n.322-120A>C
ENST00000562464.1:n.332-120A>C
ENST00000563655.5:c.241-120A>C	ENSP00000456012.1:n.241-120A>C
ENST00000567057.5:n.1A>C
ENST00000567391.5:c.188-120A>C	ENSP00000457964.1:n.188-120A>C
ENST00000567713.5:c.321+155A>C	ENSP00000455749.1:n.321+155A>C
ENST00000568319.5:c.188-120A>C	ENSP00000456905.1:n.188-120A>C
ENST00000568575.1:n.131A>C
ENST00000569616.1:c.320-120A>C
NM_000485.2:c.322-120A>C	NP_000476.1:n.322-120A>C
NM_001030018.1:c.322-120A>C	NP_001025189.1:n.322-120A>C
NM_000485.3:c.322-120A>C MANE Select	NP_000476.1:n.322-120A>C
NM_001030018.2:c.322-120A>C	NP_001025189.1:n.322-120A>C