Canonical Allele Identifier: CA8234332

Gene: APRT

Linked Data

• dbSNP Id: rs751125608
• ExAC: 16:88876085 T / C
• gnomAD v2: 16-88876085-T-C
• gnomAD v4: 16-88809677-T-C
• MyVariant Identifiers: chr16:g.88876085T>C (hg19) ; chr16:g.88809677T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809677T>C , CM000678.2:g.88809677T>C	GRCh38
NC_000016.9:g.88876085T>C , CM000678.1:g.88876085T>C	GRCh37
NC_000016.8:g.87403586T>C	NCBI36
NG_008013.1:g.7258A>G
NG_028266.1:g.10900T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*21A>G MANE Select	ENSP00000367615.3:n.*21A>G
ENST00000378364.7:c.*21A>G	ENSP00000367615.3:n.*21A>G
ENST00000426324.6:c.*25A>G	ENSP00000397007.2:n.*25A>G
ENST00000563655.5:c.*21A>G	ENSP00000456012.1:n.*21A>G
ENST00000567057.5:n.229A>G
ENST00000567391.5:c.*238A>G	ENSP00000457964.1:n.*238A>G
ENST00000567713.5:c.322-142A>G	ENSP00000455749.1:n.322-142A>G
ENST00000568319.5:c.*104A>G	ENSP00000456905.1:n.*104A>G
ENST00000569616.1:c.629A>G
NM_000485.2:c.*21A>G	NP_000476.1:n.*21A>G
NM_001030018.1:c.*25A>G	NP_001025189.1:n.*25A>G
NM_000485.3:c.*21A>G MANE Select	NP_000476.1:n.*21A>G
NM_001030018.2:c.*25A>G	NP_001025189.1:n.*25A>G