Canonical Allele Identifier: CA10644556

Gene: APRT

Linked Data

• ClinVar Variation Id: 321160
• ClinVar RCV Id: RCV000279323
• dbSNP Id: rs748634790
• gnomAD v2: 16-88876023-C-T
• gnomAD v3: 16-88809615-C-T
• gnomAD v4: 16-88809615-C-T
• MyVariant Identifiers: chr16:g.88876023C>T (hg19) ; chr16:g.88809615C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809615C>T , CM000678.2:g.88809615C>T	GRCh38
NC_000016.9:g.88876023C>T , CM000678.1:g.88876023C>T	GRCh37
NC_000016.8:g.87403524C>T	NCBI36
NG_008013.1:g.7320G>A
NG_028266.1:g.10838C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378364.8:c.*83G>A MANE Select	ENSP00000367615.3:n.*83G>A
ENST00000378364.7:c.*83G>A	ENSP00000367615.3:n.*83G>A
ENST00000426324.6:c.*87G>A	ENSP00000397007.2:n.*87G>A
ENST00000563655.5:c.*83G>A	ENSP00000456012.1:n.*83G>A
ENST00000567057.5:n.291G>A
ENST00000567391.5:c.*300G>A	ENSP00000457964.1:n.*300G>A
ENST00000567713.5:c.322-80G>A	ENSP00000455749.1:n.322-80G>A
ENST00000568319.5:c.*166G>A	ENSP00000456905.1:n.*166G>A
ENST00000569616.1:c.691G>A
NM_000485.2:c.*83G>A	NP_000476.1:n.*83G>A
NM_001030018.1:c.*87G>A	NP_001025189.1:n.*87G>A
NM_000485.3:c.*83G>A MANE Select	NP_000476.1:n.*83G>A
NM_001030018.2:c.*87G>A	NP_001025189.1:n.*87G>A