Canonical Allele Identifier: CA2612256319

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614485-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614485T>A , CM000673.2:g.6614485T>A	GRCh38
NC_000011.9:g.6635716T>A , CM000673.1:g.6635716T>A	GRCh37
NC_000011.8:g.6592292T>A	NCBI36
NG_008653.1:g.9977A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*61A>T	ENSP00000507321.1:n.*61A>T
ENST00000299427.12:c.*61A>T MANE Select	ENSP00000299427.6:n.*61A>T
ENST00000524611.2:n.792A>T
ENST00000533371.6:c.*61A>T	ENSP00000437066.1:n.*61A>T
ENST00000642892.1:c.*61A>T	ENSP00000494165.1:n.*61A>T
ENST00000643342.1:c.826A>T
ENST00000643439.1:c.*1493A>T	ENSP00000495849.1:n.*1493A>T
ENST00000643479.1:n.1939A>T
ENST00000643516.1:c.1262A>T
ENST00000644218.1:c.*61A>T	ENSP00000493574.1:n.*61A>T
ENST00000644683.1:c.*1206A>T	ENSP00000494085.1:n.*1206A>T
ENST00000644810.1:c.*61A>T	ENSP00000495895.1:n.*61A>T
ENST00000644831.1:n.1929A>T
ENST00000644933.1:c.*619A>T	ENSP00000496133.1:n.*619A>T
ENST00000645285.1:c.*619A>T	ENSP00000495058.1:n.*619A>T
ENST00000645331.1:n.2958A>T
ENST00000645620.1:c.*61A>T	ENSP00000493657.1:n.*61A>T
ENST00000646691.1:n.1640A>T
ENST00000646777.1:n.2086A>T
ENST00000647016.1:n.2233A>T
ENST00000647152.1:c.*61A>T	ENSP00000495893.1:n.*61A>T
ENST00000647209.1:c.*1622A>T	ENSP00000495558.1:n.*1622A>T
ENST00000647346.1:n.2773A>T
ENST00000299427.10:c.*61A>T	ENSP00000299427.6:n.*61A>T
ENST00000533371.5:c.*61A>T	ENSP00000437066.1:n.*61A>T
ENST00000611494.4:c.*81A>T	ENSP00000484546.1:n.*81A>T
NM_000391.3:c.*61A>T	NP_000382.3:n.*61A>T
NM_000391.4:c.*61A>T MANE Select	NP_000382.3:n.*61A>T