Canonical Allele Identifier: CA2562924683

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615412_6615418dup , CM000673.2:g.6615412_6615418dup	GRCh38
NC_000011.9:g.6636643_6636649dup , CM000673.1:g.6636643_6636649dup	GRCh37
NC_000011.8:g.6593219_6593225dup	NCBI36
NG_008653.1:g.9045_9051dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1152+25_1152+31dup	ENSP00000507321.1:n.1152+25_1152+31dup
ENST00000299427.12:c.1266+25_1266+31dup MANE Select	ENSP00000299427.6:n.1266+25_1266+31dup
ENST00000436873.7:c.503+25_503+31dup
ENST00000524611.2:n.39_45dup
ENST00000524924.2:n.386+25_386+31dup
ENST00000533371.6:c.537+25_537+31dup	ENSP00000437066.1:n.537+25_537+31dup
ENST00000642892.1:c.537+25_537+31dup	ENSP00000494165.1:n.537+25_537+31dup
ENST00000643342.1:c.339+25_339+31dup
ENST00000643439.1:c.*1006+25_*1006+31dup	ENSP00000495849.1:n.*1006+25_*1006+31dup
ENST00000643479.1:n.1452+25_1452+31dup
ENST00000643516.1:c.775+25_775+31dup
ENST00000644218.1:c.1077+25_1077+31dup	ENSP00000493574.1:n.1077+25_1077+31dup
ENST00000644683.1:c.*719+25_*719+31dup	ENSP00000494085.1:n.*719+25_*719+31dup
ENST00000644810.1:c.987+25_987+31dup	ENSP00000495895.1:n.987+25_987+31dup
ENST00000644831.1:n.1442+25_1442+31dup
ENST00000644933.1:c.*132+25_*132+31dup	ENSP00000496133.1:n.*132+25_*132+31dup
ENST00000645285.1:c.*132+25_*132+31dup	ENSP00000495058.1:n.*132+25_*132+31dup
ENST00000645331.1:n.2471+25_2471+31dup
ENST00000645620.1:c.537+25_537+31dup	ENSP00000493657.1:n.537+25_537+31dup
ENST00000646691.1:n.1066_1072dup
ENST00000646777.1:n.1599+25_1599+31dup
ENST00000647016.1:n.1746+25_1746+31dup
ENST00000647152.1:c.537+25_537+31dup	ENSP00000495893.1:n.537+25_537+31dup
ENST00000647209.1:c.*1135+25_*1135+31dup	ENSP00000495558.1:n.*1135+25_*1135+31dup
ENST00000647346.1:n.2286+25_2286+31dup
ENST00000299427.10:c.1266+25_1266+31dup	ENSP00000299427.6:n.1266+25_1266+31dup
ENST00000524611.1:n.57_63dup
ENST00000524924.1:n.221+25_221+31dup
ENST00000532191.1:n.319+25_319+31dup
ENST00000533371.5:c.537+25_537+31dup	ENSP00000437066.1:n.537+25_537+31dup
ENST00000611494.4:c.1266+25_1266+31dup	ENSP00000484546.1:n.1266+25_1266+31dup
NM_000391.3:c.1266+25_1266+31dup	NP_000382.3:n.1266+25_1266+31dup
NM_000391.4:c.1266+25_1266+31dup MANE Select	NP_000382.3:n.1266+25_1266+31dup