Canonical Allele Identifier: CA725630081

Gene: APRT

Linked Data

• dbSNP Id: rs1474088729
• gnomAD v3: 16-88809626-G-C
• gnomAD v4: 16-88809626-G-C
• MyVariant Identifiers: chr16:g.88876034G>C (hg19) ; chr16:g.88809626G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809626G>C , CM000678.2:g.88809626G>C	GRCh38
NC_000016.9:g.88876034G>C , CM000678.1:g.88876034G>C	GRCh37
NC_000016.8:g.87403535G>C	NCBI36
NG_008013.1:g.7309C>G
NG_028266.1:g.10849G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*72C>G MANE Select	ENSP00000367615.3:n.*72C>G
ENST00000378364.7:c.*72C>G	ENSP00000367615.3:n.*72C>G
ENST00000426324.6:c.*76C>G	ENSP00000397007.2:n.*76C>G
ENST00000563655.5:c.*72C>G	ENSP00000456012.1:n.*72C>G
ENST00000567057.5:n.280C>G
ENST00000567391.5:c.*289C>G	ENSP00000457964.1:n.*289C>G
ENST00000567713.5:c.322-91C>G	ENSP00000455749.1:n.322-91C>G
ENST00000568319.5:c.*155C>G	ENSP00000456905.1:n.*155C>G
ENST00000569616.1:c.680C>G
NM_000485.2:c.*72C>G	NP_000476.1:n.*72C>G
NM_001030018.1:c.*76C>G	NP_001025189.1:n.*76C>G
NM_000485.3:c.*72C>G MANE Select	NP_000476.1:n.*72C>G
NM_001030018.2:c.*76C>G	NP_001025189.1:n.*76C>G