Canonical Allele Identifier: CA2574741381

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617571_6617575dup , CM000673.2:g.6617571_6617575dup	GRCh38
NC_000011.9:g.6638802_6638806dup , CM000673.1:g.6638802_6638806dup	GRCh37
NC_000011.8:g.6595378_6595382dup	NCBI36
NG_008653.1:g.6887_6891dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.266+51_266+55dup	ENSP00000507321.1:n.266+51_266+55dup
ENST00000299427.12:c.380+51_380+55dup MANE Select	ENSP00000299427.6:n.380+51_380+55dup
ENST00000428886.7:n.468+51_468+55dup
ENST00000436873.7:c.184+51_184+55dup
ENST00000524788.2:n.1392+51_1392+55dup
ENST00000524903.2:n.1508+51_1508+55dup
ENST00000528571.6:c.*120+51_*120+55dup	ENSP00000434647.1:n.*120+51_*120+55dup
ENST00000530040.2:n.409+51_409+55dup
ENST00000533371.6:c.-350+51_-350+55dup	ENSP00000437066.1:n.-350+51_-350+55dup
ENST00000534644.6:n.381+51_381+55dup
ENST00000642892.1:c.-297+51_-297+55dup	ENSP00000494165.1:n.-297+51_-297+55dup
ENST00000643439.1:c.*120+51_*120+55dup	ENSP00000495849.1:n.*120+51_*120+55dup
ENST00000643479.1:n.409+51_409+55dup
ENST00000643516.1:c.267+51_267+55dup
ENST00000644151.1:n.1672+51_1672+55dup
ENST00000644218.1:c.380+51_380+55dup	ENSP00000493574.1:n.380+51_380+55dup
ENST00000644683.1:c.380+51_380+55dup	ENSP00000494085.1:n.380+51_380+55dup
ENST00000644810.1:c.230-422_230-418dup	ENSP00000495895.1:n.230-422_230-418dup
ENST00000644831.1:n.409+51_409+55dup
ENST00000644933.1:c.-350+51_-350+55dup	ENSP00000496133.1:n.-350+51_-350+55dup
ENST00000645020.1:n.1408+51_1408+55dup
ENST00000645285.1:c.-350+51_-350+55dup	ENSP00000495058.1:n.-350+51_-350+55dup
ENST00000645331.1:n.453_457dup
ENST00000645620.1:c.-292+51_-292+55dup	ENSP00000493657.1:n.-292+51_-292+55dup
ENST00000646777.1:n.409+51_409+55dup
ENST00000647016.1:n.713+51_713+55dup
ENST00000647152.1:c.-350+51_-350+55dup	ENSP00000495893.1:n.-350+51_-350+55dup
ENST00000647209.1:c.*249+51_*249+55dup	ENSP00000495558.1:n.*249+51_*249+55dup
ENST00000647346.1:n.1400+51_1400+55dup
ENST00000299427.10:c.380+51_380+55dup	ENSP00000299427.6:n.380+51_380+55dup
ENST00000428886.6:n.402+51_402+55dup
ENST00000436873.6:c.380+51_380+55dup	ENSP00000398136.2:n.380+51_380+55dup
ENST00000528571.5:c.*120+51_*120+55dup	ENSP00000434647.1:n.*120+51_*120+55dup
ENST00000530040.1:n.492+51_492+55dup
ENST00000533371.5:c.-350+51_-350+55dup	ENSP00000437066.1:n.-350+51_-350+55dup
ENST00000534644.5:n.365+51_365+55dup
ENST00000611494.4:c.380+51_380+55dup	ENSP00000484546.1:n.380+51_380+55dup
NM_000391.3:c.380+51_380+55dup	NP_000382.3:n.380+51_380+55dup
NM_000391.4:c.380+51_380+55dup MANE Select	NP_000382.3:n.380+51_380+55dup