Canonical Allele Identifier: CA8234333

Gene: APRT

Linked Data

• dbSNP Id: rs761192074
• ExAC: 16:88876091 T / G
• gnomAD v2: 16-88876091-T-G
• gnomAD v4: 16-88809683-T-G
• MyVariant Identifiers: chr16:g.88876091T>G (hg19) ; chr16:g.88809683T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809683T>G , CM000678.2:g.88809683T>G	GRCh38
NC_000016.9:g.88876091T>G , CM000678.1:g.88876091T>G	GRCh37
NC_000016.8:g.87403592T>G	NCBI36
NG_008013.1:g.7252A>C
NG_028266.1:g.10906T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*15A>C MANE Select	ENSP00000367615.3:n.*15A>C
ENST00000378364.7:c.*15A>C	ENSP00000367615.3:n.*15A>C
ENST00000426324.6:c.*19A>C	ENSP00000397007.2:n.*19A>C
ENST00000563655.5:c.*15A>C	ENSP00000456012.1:n.*15A>C
ENST00000567057.5:n.223A>C
ENST00000567391.5:c.*232A>C	ENSP00000457964.1:n.*232A>C
ENST00000567713.5:c.322-148A>C	ENSP00000455749.1:n.322-148A>C
ENST00000568319.5:c.*98A>C	ENSP00000456905.1:n.*98A>C
ENST00000568575.1:n.487A>C
ENST00000569616.1:c.623A>C
NM_000485.2:c.*15A>C	NP_000476.1:n.*15A>C
NM_001030018.1:c.*19A>C	NP_001025189.1:n.*19A>C
NM_000485.3:c.*15A>C MANE Select	NP_000476.1:n.*15A>C
NM_001030018.2:c.*19A>C	NP_001025189.1:n.*19A>C