Canonical Allele Identifier: CA286428291

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88811897C>T , CM000678.2:g.88811897C>T	GRCh38
NC_000016.9:g.88878305C>T , CM000678.1:g.88878305C>T	GRCh37
NC_000016.8:g.87405806C>T	NCBI36
NG_008013.1:g.5038G>A
NG_008667.1:g.50070G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000485.3:c.3G>A MANE Select	NP_000476.1:p.Met1Ile
ENST00000378364.8:c.3G>A MANE Select	ENSP00000367615.3:p.Met1Ile
NM_000485.2:c.3G>A	NP_000476.1:p.Met1Ile
NM_001030018.1:c.3G>A	NP_001025189.1:p.Met1Ile
NM_001030018.2:c.3G>A	NP_001025189.1:p.Met1Ile
ENST00000378364.7:c.3G>A	ENSP00000367615.3:p.Met1Ile
ENST00000426324.6:c.3G>A	ENSP00000397007.2:p.Met1Ile
ENST00000563655.5:c.3G>A	ENSP00000456012.1:p.Met1Ile
ENST00000564858.1:n.24G>A
ENST00000567391.5:c.3G>A	ENSP00000457964.1:p.Met1Ile
ENST00000567713.5:c.3G>A	ENSP00000455749.1:p.Met1Ile
ENST00000568319.5:c.3G>A	ENSP00000456905.1:p.Met1Ile
ENST00000569616.1:c.1G>A