Canonical Allele Identifier: CA2612257189

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615390-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615390G>T , CM000673.2:g.6615390G>T	GRCh38
NC_000011.9:g.6636621G>T , CM000673.1:g.6636621G>T	GRCh37
NC_000011.8:g.6593197G>T	NCBI36
NG_008653.1:g.9072C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1152+52C>A	ENSP00000507321.1:n.1152+52C>A
ENST00000299427.12:c.1266+52C>A MANE Select	ENSP00000299427.6:n.1266+52C>A
ENST00000436873.7:c.503+52C>A
ENST00000524611.2:n.66C>A
ENST00000524924.2:n.386+52C>A
ENST00000533371.6:c.537+52C>A	ENSP00000437066.1:n.537+52C>A
ENST00000642892.1:c.537+52C>A	ENSP00000494165.1:n.537+52C>A
ENST00000643342.1:c.339+52C>A
ENST00000643439.1:c.*1006+52C>A	ENSP00000495849.1:n.*1006+52C>A
ENST00000643479.1:n.1452+52C>A
ENST00000643516.1:c.775+52C>A
ENST00000644218.1:c.1077+52C>A	ENSP00000493574.1:n.1077+52C>A
ENST00000644683.1:c.*719+52C>A	ENSP00000494085.1:n.*719+52C>A
ENST00000644810.1:c.987+52C>A	ENSP00000495895.1:n.987+52C>A
ENST00000644831.1:n.1442+52C>A
ENST00000644933.1:c.*132+52C>A	ENSP00000496133.1:n.*132+52C>A
ENST00000645285.1:c.*132+52C>A	ENSP00000495058.1:n.*132+52C>A
ENST00000645331.1:n.2471+52C>A
ENST00000645620.1:c.537+52C>A	ENSP00000493657.1:n.537+52C>A
ENST00000646691.1:n.1093C>A
ENST00000646777.1:n.1599+52C>A
ENST00000647016.1:n.1746+52C>A
ENST00000647152.1:c.537+52C>A	ENSP00000495893.1:n.537+52C>A
ENST00000647209.1:c.*1135+52C>A	ENSP00000495558.1:n.*1135+52C>A
ENST00000647346.1:n.2286+52C>A
ENST00000299427.10:c.1266+52C>A	ENSP00000299427.6:n.1266+52C>A
ENST00000524611.1:n.84C>A
ENST00000524924.1:n.221+52C>A
ENST00000532191.1:n.319+52C>A
ENST00000533371.5:c.537+52C>A	ENSP00000437066.1:n.537+52C>A
ENST00000611494.4:c.1266+52C>A	ENSP00000484546.1:n.1266+52C>A
NM_000391.3:c.1266+52C>A	NP_000382.3:n.1266+52C>A
NM_000391.4:c.1266+52C>A MANE Select	NP_000382.3:n.1266+52C>A