Canonical Allele Identifier: CA397087800

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810099A>C , CM000678.2:g.88810099A>C	GRCh38
NC_000016.9:g.88876507A>C , CM000678.1:g.88876507A>C	GRCh37
NC_000016.8:g.87404008A>C	NCBI36
NG_008013.1:g.6836T>G
NG_028266.1:g.11322A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000485.3:c.371T>G MANE Select	NP_000476.1:p.Val124Gly
ENST00000378364.8:c.371T>G MANE Select	ENSP00000367615.3:p.Val124Gly
NM_000485.2:c.371T>G	NP_000476.1:p.Val124Gly
NM_001030018.1:c.371T>G	NP_001025189.1:p.Val124Gly
NM_001030018.2:c.371T>G	NP_001025189.1:p.Val124Gly
ENST00000378364.7:c.371T>G	ENSP00000367615.3:p.Val124Gly
ENST00000426324.6:c.371T>G	ENSP00000397007.2:p.Val124Gly
ENST00000562464.1:n.381T>G
ENST00000563655.5:c.290T>G	ENSP00000456012.1:p.Val97Gly
ENST00000567057.5:n.170T>G
ENST00000567391.5:c.*45T>G	ENSP00000457964.1:n.*45T>G
ENST00000567713.5:c.321+324T>G	ENSP00000455749.1:n.321+324T>G
ENST00000568319.5:c.*45T>G	ENSP00000456905.1:n.*45T>G
ENST00000568575.1:n.300T>G
ENST00000569616.1:c.369T>G