Canonical Allele Identifier: CA2612256321

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614489-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614489G>A , CM000673.2:g.6614489G>A	GRCh38
NC_000011.9:g.6635720G>A , CM000673.1:g.6635720G>A	GRCh37
NC_000011.8:g.6592296G>A	NCBI36
NG_008653.1:g.9973C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*57C>T	ENSP00000507321.1:n.*57C>T
ENST00000299427.12:c.*57C>T MANE Select	ENSP00000299427.6:n.*57C>T
ENST00000524611.2:n.788C>T
ENST00000533371.6:c.*57C>T	ENSP00000437066.1:n.*57C>T
ENST00000642892.1:c.*57C>T	ENSP00000494165.1:n.*57C>T
ENST00000643342.1:c.822C>T
ENST00000643439.1:c.*1489C>T	ENSP00000495849.1:n.*1489C>T
ENST00000643479.1:n.1935C>T
ENST00000643516.1:c.1258C>T
ENST00000644218.1:c.*57C>T	ENSP00000493574.1:n.*57C>T
ENST00000644683.1:c.*1202C>T	ENSP00000494085.1:n.*1202C>T
ENST00000644810.1:c.*57C>T	ENSP00000495895.1:n.*57C>T
ENST00000644831.1:n.1925C>T
ENST00000644933.1:c.*615C>T	ENSP00000496133.1:n.*615C>T
ENST00000645285.1:c.*615C>T	ENSP00000495058.1:n.*615C>T
ENST00000645331.1:n.2954C>T
ENST00000645620.1:c.*57C>T	ENSP00000493657.1:n.*57C>T
ENST00000646691.1:n.1636C>T
ENST00000646777.1:n.2082C>T
ENST00000647016.1:n.2229C>T
ENST00000647152.1:c.*57C>T	ENSP00000495893.1:n.*57C>T
ENST00000647209.1:c.*1618C>T	ENSP00000495558.1:n.*1618C>T
ENST00000647346.1:n.2769C>T
ENST00000299427.10:c.*57C>T	ENSP00000299427.6:n.*57C>T
ENST00000533371.5:c.*57C>T	ENSP00000437066.1:n.*57C>T
ENST00000611494.4:c.*77C>T	ENSP00000484546.1:n.*77C>T
NM_000391.3:c.*57C>T	NP_000382.3:n.*57C>T
NM_000391.4:c.*57C>T MANE Select	NP_000382.3:n.*57C>T