Canonical Allele Identifier: CA379473116

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636767G>T (hg19) ; chr11:g.6615536G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615536G>T , CM000673.2:g.6615536G>T	GRCh38
NC_000011.9:g.6636767G>T , CM000673.1:g.6636767G>T	GRCh37
NC_000011.8:g.6593343G>T	NCBI36
NG_008653.1:g.8926C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1058C>A	ENSP00000507321.1:p.Thr353Lys
ENST00000299427.12:c.1172C>A MANE Select	ENSP00000299427.6:p.Thr391Lys
ENST00000436873.7:c.409C>A
ENST00000524924.2:n.292C>A
ENST00000533371.6:c.443C>A	ENSP00000437066.1:p.Thr148Lys
ENST00000642892.1:c.443C>A	ENSP00000494165.1:p.Thr148Lys
ENST00000643342.1:c.245C>A
ENST00000643439.1:c.*912C>A	ENSP00000495849.1:n.*912C>A
ENST00000643479.1:n.1358C>A
ENST00000643516.1:c.681C>A
ENST00000644218.1:c.983C>A	ENSP00000493574.1:p.Thr328Lys
ENST00000644683.1:c.*625C>A	ENSP00000494085.1:n.*625C>A
ENST00000644810.1:c.893C>A	ENSP00000495895.1:p.Thr298Lys
ENST00000644831.1:n.1348C>A
ENST00000644933.1:c.*38C>A	ENSP00000496133.1:n.*38C>A
ENST00000645285.1:c.*38C>A	ENSP00000495058.1:n.*38C>A
ENST00000645331.1:n.2377C>A
ENST00000645620.1:c.443C>A	ENSP00000493657.1:p.Thr148Lys
ENST00000646691.1:n.947C>A
ENST00000646777.1:n.1505C>A
ENST00000647016.1:n.1652C>A
ENST00000647152.1:c.443C>A	ENSP00000495893.1:p.Thr148Lys
ENST00000647209.1:c.*1041C>A	ENSP00000495558.1:n.*1041C>A
ENST00000647346.1:n.2192C>A
ENST00000299427.10:c.1172C>A	ENSP00000299427.6:p.Thr391Lys
ENST00000524924.1:n.127C>A
ENST00000532191.1:n.225C>A
ENST00000533371.5:c.443C>A	ENSP00000437066.1:p.Thr148Lys
ENST00000611494.4:c.1172C>A	ENSP00000484546.1:p.Thr391Lys
NM_000391.3:c.1172C>A	NP_000382.3:p.Thr391Lys
NM_000391.4:c.1172C>A MANE Select	NP_000382.3:p.Thr391Lys