Canonical Allele Identifier: CA379473113

Gene: TPP1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1058C>T	ENSP00000507321.1:p.Thr353Ile
ENST00000299427.12:c.1172C>T MANE Select	ENSP00000299427.6:p.Thr391Ile
ENST00000436873.7:c.409C>T
ENST00000524924.2:n.292C>T
ENST00000533371.6:c.443C>T	ENSP00000437066.1:p.Thr148Ile
ENST00000642892.1:c.443C>T	ENSP00000494165.1:p.Thr148Ile
ENST00000643342.1:c.245C>T
ENST00000643439.1:c.*912C>T	ENSP00000495849.1:n.*912C>T
ENST00000643479.1:n.1358C>T
ENST00000643516.1:c.681C>T
ENST00000644218.1:c.983C>T	ENSP00000493574.1:p.Thr328Ile
ENST00000644683.1:c.*625C>T	ENSP00000494085.1:n.*625C>T
ENST00000644810.1:c.893C>T	ENSP00000495895.1:p.Thr298Ile
ENST00000644831.1:n.1348C>T
ENST00000644933.1:c.*38C>T	ENSP00000496133.1:n.*38C>T
ENST00000645285.1:c.*38C>T	ENSP00000495058.1:n.*38C>T
ENST00000645331.1:n.2377C>T
ENST00000645620.1:c.443C>T	ENSP00000493657.1:p.Thr148Ile
ENST00000646691.1:n.947C>T
ENST00000646777.1:n.1505C>T
ENST00000647016.1:n.1652C>T
ENST00000647152.1:c.443C>T	ENSP00000495893.1:p.Thr148Ile
ENST00000647209.1:c.*1041C>T	ENSP00000495558.1:n.*1041C>T
ENST00000647346.1:n.2192C>T
ENST00000299427.10:c.1172C>T	ENSP00000299427.6:p.Thr391Ile
ENST00000524924.1:n.127C>T
ENST00000532191.1:n.225C>T
ENST00000533371.5:c.443C>T	ENSP00000437066.1:p.Thr148Ile
ENST00000611494.4:c.1172C>T	ENSP00000484546.1:p.Thr391Ile
NM_000391.3:c.1172C>T	NP_000382.3:p.Thr391Ile
NM_000391.4:c.1172C>T MANE Select	NP_000382.3:p.Thr391Ile