Canonical Allele Identifier: CA397086031

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876107C>A (hg19) ; chr16:g.88809699C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809699C>A , CM000678.2:g.88809699C>A	GRCh38
NC_000016.9:g.88876107C>A , CM000678.1:g.88876107C>A	GRCh37
NC_000016.8:g.87403608C>A	NCBI36
NG_008013.1:g.7236G>T
NG_028266.1:g.10922C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.542G>T MANE Select	ENSP00000367615.3:p.Ter181Leu
ENST00000378364.7:c.542G>T	ENSP00000367615.3:p.Ter181Leu
ENST00000426324.6:c.*3G>T	ENSP00000397007.2:n.*3G>T
ENST00000563655.5:c.461G>T	ENSP00000456012.1:p.Ter154Leu
ENST00000567057.5:n.207G>T
ENST00000567391.5:c.*216G>T	ENSP00000457964.1:n.*216G>T
ENST00000567713.5:c.322-164G>T	ENSP00000455749.1:n.322-164G>T
ENST00000568319.5:c.*82G>T	ENSP00000456905.1:n.*82G>T
ENST00000568575.1:n.471G>T
ENST00000569616.1:c.607G>T
NM_000485.2:c.542G>T	NP_000476.1:p.Ter181Leu
NM_001030018.1:c.*3G>T	NP_001025189.1:n.*3G>T
NM_000485.3:c.542G>T MANE Select	NP_000476.1:p.Ter181Leu
NM_001030018.2:c.*3G>T	NP_001025189.1:n.*3G>T