Canonical Allele Identifier: CA2612256327

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614501-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614501C>A , CM000673.2:g.6614501C>A	GRCh38
NC_000011.9:g.6635732C>A , CM000673.1:g.6635732C>A	GRCh37
NC_000011.8:g.6592308C>A	NCBI36
NG_008653.1:g.9961G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*45G>T	ENSP00000507321.1:n.*45G>T
ENST00000299427.12:c.*45G>T MANE Select	ENSP00000299427.6:n.*45G>T
ENST00000524611.2:n.776G>T
ENST00000533371.6:c.*45G>T	ENSP00000437066.1:n.*45G>T
ENST00000642892.1:c.*45G>T	ENSP00000494165.1:n.*45G>T
ENST00000643342.1:c.810G>T
ENST00000643439.1:c.*1477G>T	ENSP00000495849.1:n.*1477G>T
ENST00000643479.1:n.1923G>T
ENST00000643516.1:c.1246G>T
ENST00000644218.1:c.*45G>T	ENSP00000493574.1:n.*45G>T
ENST00000644683.1:c.*1190G>T	ENSP00000494085.1:n.*1190G>T
ENST00000644810.1:c.*45G>T	ENSP00000495895.1:n.*45G>T
ENST00000644831.1:n.1913G>T
ENST00000644933.1:c.*603G>T	ENSP00000496133.1:n.*603G>T
ENST00000645285.1:c.*603G>T	ENSP00000495058.1:n.*603G>T
ENST00000645331.1:n.2942G>T
ENST00000645620.1:c.*45G>T	ENSP00000493657.1:n.*45G>T
ENST00000646691.1:n.1624G>T
ENST00000646777.1:n.2070G>T
ENST00000647016.1:n.2217G>T
ENST00000647152.1:c.*45G>T	ENSP00000495893.1:n.*45G>T
ENST00000647209.1:c.*1606G>T	ENSP00000495558.1:n.*1606G>T
ENST00000647346.1:n.2757G>T
ENST00000299427.10:c.*45G>T	ENSP00000299427.6:n.*45G>T
ENST00000533371.5:c.*45G>T	ENSP00000437066.1:n.*45G>T
ENST00000611494.4:c.*65G>T	ENSP00000484546.1:n.*65G>T
NM_000391.3:c.*45G>T	NP_000382.3:n.*45G>T
NM_000391.4:c.*45G>T MANE Select	NP_000382.3:n.*45G>T