Canonical Allele Identifier: CA379476838

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6618875C>A , CM000673.2:g.6618875C>A	GRCh38
NC_000011.9:g.6640106C>A , CM000673.1:g.6640106C>A	GRCh37
NC_000011.8:g.6596682C>A	NCBI36
NG_008653.1:g.5587G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000391.4:c.130G>T MANE Select	NP_000382.3:p.Glu44Ter
ENST00000299427.12:c.130G>T MANE Select	ENSP00000299427.6:p.Glu44Ter
NM_000391.3:c.130G>T	NP_000382.3:p.Glu44Ter
ENST00000299427.10:c.130G>T	ENSP00000299427.6:p.Glu44Ter
ENST00000428886.6:n.152G>T
ENST00000428886.7:n.218G>T
ENST00000436873.6:c.130G>T	ENSP00000398136.2:p.Glu44Ter
ENST00000524788.2:n.143G>T
ENST00000524903.1:n.227G>T
ENST00000524903.2:n.259G>T
ENST00000528571.5:c.89+321G>T	ENSP00000434647.1:n.89+321G>T
ENST00000528571.6:c.89+321G>T	ENSP00000434647.1:n.89+321G>T
ENST00000528657.1:c.*317G>T	ENSP00000435001.1:n.*317G>T
ENST00000528657.2:c.*317G>T	ENSP00000435001.1:n.*317G>T
ENST00000528917.1:n.431G>T
ENST00000530040.1:n.242G>T
ENST00000530040.2:n.159G>T
ENST00000531754.1:n.178G>T
ENST00000531754.2:c.130G>T	ENSP00000493706.1:p.Glu44Ter
ENST00000533371.5:c.-600G>T	ENSP00000437066.1:n.-600G>T
ENST00000533371.6:c.-600G>T	ENSP00000437066.1:n.-600G>T
ENST00000534644.5:n.214+321G>T
ENST00000534644.6:n.131G>T
ENST00000611494.4:c.130G>T	ENSP00000484546.1:p.Glu44Ter
ENST00000642892.1:c.-547G>T	ENSP00000494165.1:n.-547G>T
ENST00000643439.1:c.89+321G>T	ENSP00000495849.1:n.89+321G>T
ENST00000643479.1:n.159G>T
ENST00000643516.1:c.17G>T
ENST00000644151.1:n.423G>T
ENST00000644218.1:c.130G>T	ENSP00000493574.1:p.Glu44Ter
ENST00000644683.1:c.130G>T	ENSP00000494085.1:p.Glu44Ter
ENST00000644810.1:c.130G>T	ENSP00000495895.1:p.Glu44Ter
ENST00000644831.1:n.159G>T
ENST00000644933.1:c.-600G>T	ENSP00000496133.1:n.-600G>T
ENST00000645020.1:n.159G>T
ENST00000645285.1:c.-501+321G>T	ENSP00000495058.1:n.-501+321G>T
ENST00000645331.1:n.152G>T
ENST00000645620.1:c.-542G>T	ENSP00000493657.1:n.-542G>T
ENST00000646777.1:n.159G>T
ENST00000647152.1:c.-501+321G>T	ENSP00000495893.1:n.-501+321G>T
ENST00000647209.1:c.122G>T	ENSP00000495558.1:p.Ter41Leu
ENST00000647346.1:n.151G>T
ENST00000682424.1:c.23-7G>T	ENSP00000507321.1:n.23-7G>T