Canonical Allele Identifier: CA397086049

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876111C>G (hg19) ; chr16:g.88809703C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809703C>G , CM000678.2:g.88809703C>G	GRCh38
NC_000016.9:g.88876111C>G , CM000678.1:g.88876111C>G	GRCh37
NC_000016.8:g.87403612C>G	NCBI36
NG_008013.1:g.7232G>C
NG_028266.1:g.10926C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.538G>C MANE Select	ENSP00000367615.3:p.Glu180Gln
ENST00000378364.7:c.538G>C	ENSP00000367615.3:p.Glu180Gln
ENST00000426324.6:c.404G>C	ENSP00000397007.2:p.Ter135Ser
ENST00000563655.5:c.457G>C	ENSP00000456012.1:p.Glu153Gln
ENST00000567057.5:n.203G>C
ENST00000567391.5:c.*212G>C	ENSP00000457964.1:n.*212G>C
ENST00000567713.5:c.322-168G>C	ENSP00000455749.1:n.322-168G>C
ENST00000568319.5:c.*78G>C	ENSP00000456905.1:n.*78G>C
ENST00000568575.1:n.467G>C
ENST00000569616.1:c.603G>C
NM_000485.2:c.538G>C	NP_000476.1:p.Glu180Gln
NM_001030018.1:c.404G>C	NP_001025189.1:p.Ter135Ser
NM_000485.3:c.538G>C MANE Select	NP_000476.1:p.Glu180Gln
NM_001030018.2:c.404G>C	NP_001025189.1:p.Ter135Ser