Canonical Allele Identifier: CA624209202

Gene: APRT

Linked Data

• dbSNP Id: rs1194988526
• gnomAD v2: 16-88876042-A-C
• gnomAD v3: 16-88809634-A-C
• gnomAD v4: 16-88809634-A-C
• MyVariant Identifiers: chr16:g.88876042A>C (hg19) ; chr16:g.88809634A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809634A>C , CM000678.2:g.88809634A>C	GRCh38
NC_000016.9:g.88876042A>C , CM000678.1:g.88876042A>C	GRCh37
NC_000016.8:g.87403543A>C	NCBI36
NG_008013.1:g.7301T>G
NG_028266.1:g.10857A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*64T>G MANE Select	ENSP00000367615.3:n.*64T>G
ENST00000378364.7:c.*64T>G	ENSP00000367615.3:n.*64T>G
ENST00000426324.6:c.*68T>G	ENSP00000397007.2:n.*68T>G
ENST00000563655.5:c.*64T>G	ENSP00000456012.1:n.*64T>G
ENST00000567057.5:n.272T>G
ENST00000567391.5:c.*281T>G	ENSP00000457964.1:n.*281T>G
ENST00000567713.5:c.322-99T>G	ENSP00000455749.1:n.322-99T>G
ENST00000568319.5:c.*147T>G	ENSP00000456905.1:n.*147T>G
ENST00000569616.1:c.672T>G
NM_000485.2:c.*64T>G	NP_000476.1:n.*64T>G
NM_001030018.1:c.*68T>G	NP_001025189.1:n.*68T>G
NM_000485.3:c.*64T>G MANE Select	NP_000476.1:n.*64T>G
NM_001030018.2:c.*68T>G	NP_001025189.1:n.*68T>G