Canonical Allele Identifier: CA5858952

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617372G>A , CM000673.2:g.6617372G>A	GRCh38
NC_000011.9:g.6638603G>A , CM000673.1:g.6638603G>A	GRCh37
NC_000011.8:g.6595179G>A	NCBI36
NG_008653.1:g.7090C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000391.4:c.437C>T MANE Select	NP_000382.3:p.Thr146Met
ENST00000299427.12:c.437C>T MANE Select	ENSP00000299427.6:p.Thr146Met
NM_000391.3:c.437C>T	NP_000382.3:p.Thr146Met
ENST00000299427.10:c.437C>T	ENSP00000299427.6:p.Thr146Met
ENST00000428886.6:n.459C>T
ENST00000428886.7:n.525C>T
ENST00000436873.6:c.437C>T	ENSP00000398136.2:p.Thr146Met
ENST00000436873.7:c.241C>T
ENST00000524788.2:n.1449C>T
ENST00000524903.2:n.1565C>T
ENST00000528571.5:c.*177C>T	ENSP00000434647.1:n.*177C>T
ENST00000528571.6:c.*177C>T	ENSP00000434647.1:n.*177C>T
ENST00000528807.2:n.93C>T
ENST00000530040.1:n.549C>T
ENST00000530040.2:n.466C>T
ENST00000533371.5:c.-293C>T	ENSP00000437066.1:n.-293C>T
ENST00000533371.6:c.-293C>T	ENSP00000437066.1:n.-293C>T
ENST00000534644.5:n.422C>T
ENST00000534644.6:n.438C>T
ENST00000611494.4:c.437C>T	ENSP00000484546.1:p.Thr146Met
ENST00000642892.1:c.-240C>T	ENSP00000494165.1:n.-240C>T
ENST00000643439.1:c.*177C>T	ENSP00000495849.1:n.*177C>T
ENST00000643479.1:n.466C>T
ENST00000643516.1:c.324C>T
ENST00000644151.1:n.1729C>T
ENST00000644218.1:c.437C>T	ENSP00000493574.1:p.Thr146Met
ENST00000644683.1:c.437C>T	ENSP00000494085.1:p.Thr146Met
ENST00000644810.1:c.230-219C>T	ENSP00000495895.1:n.230-219C>T
ENST00000644831.1:n.466C>T
ENST00000644933.1:c.-293C>T	ENSP00000496133.1:n.-293C>T
ENST00000645020.1:n.1465C>T
ENST00000645285.1:c.-293C>T	ENSP00000495058.1:n.-293C>T
ENST00000645331.1:n.656C>T
ENST00000645620.1:c.-235C>T	ENSP00000493657.1:n.-235C>T
ENST00000646777.1:n.466C>T
ENST00000647016.1:n.770C>T
ENST00000647152.1:c.-293C>T	ENSP00000495893.1:n.-293C>T
ENST00000647209.1:c.*306C>T	ENSP00000495558.1:n.*306C>T
ENST00000647346.1:n.1457C>T
ENST00000682424.1:c.323C>T	ENSP00000507321.1:p.Thr108Met