Canonical Allele Identifier: CA397087224

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809813A>G , CM000678.2:g.88809813A>G	GRCh38
NC_000016.9:g.88876221A>G , CM000678.1:g.88876221A>G	GRCh37
NC_000016.8:g.87403722A>G	NCBI36
NG_008013.1:g.7122T>C
NG_028266.1:g.11036A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000485.3:c.428T>C MANE Select	NP_000476.1:p.Leu143Pro
ENST00000378364.8:c.428T>C MANE Select	ENSP00000367615.3:p.Leu143Pro
NM_000485.2:c.428T>C	NP_000476.1:p.Leu143Pro
NM_001030018.1:c.401-107T>C	NP_001025189.1:n.401-107T>C
NM_001030018.2:c.401-107T>C	NP_001025189.1:n.401-107T>C
ENST00000378364.7:c.428T>C	ENSP00000367615.3:p.Leu143Pro
ENST00000426324.6:c.401-107T>C	ENSP00000397007.2:n.401-107T>C
ENST00000562464.1:n.438T>C
ENST00000563655.5:c.347T>C	ENSP00000456012.1:p.Leu116Pro
ENST00000567057.5:n.200-107T>C
ENST00000567391.5:c.*102T>C	ENSP00000457964.1:n.*102T>C
ENST00000567713.5:c.322-278T>C	ENSP00000455749.1:n.322-278T>C
ENST00000568319.5:c.*75-107T>C	ENSP00000456905.1:n.*75-107T>C
ENST00000568575.1:n.357T>C
ENST00000569616.1:c.493T>C