Canonical Allele Identifier: CA286422731

Gene: APRT

Linked Data

• dbSNP Id: rs931740936
• gnomAD v3: 16-88809641-C-G
• gnomAD v4: 16-88809641-C-G
• MyVariant Identifiers: chr16:g.88876049C>G (hg19) ; chr16:g.88809641C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809641C>G , CM000678.2:g.88809641C>G	GRCh38
NC_000016.9:g.88876049C>G , CM000678.1:g.88876049C>G	GRCh37
NC_000016.8:g.87403550C>G	NCBI36
NG_008013.1:g.7294G>C
NG_028266.1:g.10864C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*57G>C MANE Select	ENSP00000367615.3:n.*57G>C
ENST00000378364.7:c.*57G>C	ENSP00000367615.3:n.*57G>C
ENST00000426324.6:c.*61G>C	ENSP00000397007.2:n.*61G>C
ENST00000563655.5:c.*57G>C	ENSP00000456012.1:n.*57G>C
ENST00000567057.5:n.265G>C
ENST00000567391.5:c.*274G>C	ENSP00000457964.1:n.*274G>C
ENST00000567713.5:c.322-106G>C	ENSP00000455749.1:n.322-106G>C
ENST00000568319.5:c.*140G>C	ENSP00000456905.1:n.*140G>C
ENST00000569616.1:c.665G>C
NM_000485.2:c.*57G>C	NP_000476.1:n.*57G>C
NM_001030018.1:c.*61G>C	NP_001025189.1:n.*61G>C
NM_000485.3:c.*57G>C MANE Select	NP_000476.1:n.*57G>C
NM_001030018.2:c.*61G>C	NP_001025189.1:n.*61G>C