Canonical Allele Identifier: CA379475071

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616760G>A , CM000673.2:g.6616760G>A	GRCh38
NC_000011.9:g.6637991G>A , CM000673.1:g.6637991G>A	GRCh37
NC_000011.8:g.6594567G>A	NCBI36
NG_008653.1:g.7702C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.673C>T	ENSP00000507321.1:p.Gln225Ter
ENST00000299427.12:c.787C>T MANE Select	ENSP00000299427.6:p.Gln263Ter
ENST00000436873.7:c.312+541C>T
ENST00000524788.2:n.1946C>T
ENST00000524903.2:n.2062C>T
ENST00000528807.2:n.443C>T
ENST00000530040.2:n.480-257C>T
ENST00000533371.6:c.58C>T	ENSP00000437066.1:p.Gln20Ter
ENST00000642892.1:c.58C>T	ENSP00000494165.1:p.Gln20Ter
ENST00000643439.1:c.*527C>T	ENSP00000495849.1:n.*527C>T
ENST00000643479.1:n.816C>T
ENST00000643516.1:c.396-257C>T
ENST00000644151.1:n.2226C>T
ENST00000644218.1:c.787C>T	ENSP00000493574.1:p.Gln263Ter
ENST00000644683.1:c.*240C>T	ENSP00000494085.1:n.*240C>T
ENST00000644810.1:c.508C>T	ENSP00000495895.1:p.Gln170Ter
ENST00000644831.1:n.963C>T
ENST00000644933.1:c.58C>T	ENSP00000496133.1:p.Gln20Ter
ENST00000645020.1:n.2077C>T
ENST00000645285.1:c.58C>T	ENSP00000495058.1:p.Gln20Ter
ENST00000645331.1:n.1153C>T
ENST00000645620.1:c.58C>T	ENSP00000493657.1:p.Gln20Ter
ENST00000646777.1:n.963C>T
ENST00000647016.1:n.1267C>T
ENST00000647152.1:c.58C>T	ENSP00000495893.1:p.Gln20Ter
ENST00000647209.1:c.*656C>T	ENSP00000495558.1:n.*656C>T
ENST00000647346.1:n.1807C>T
ENST00000299427.10:c.787C>T	ENSP00000299427.6:p.Gln263Ter
ENST00000436873.6:c.451-257C>T	ENSP00000398136.2:n.451-257C>T
ENST00000524788.1:n.487C>T
ENST00000528807.1:n.337C>T
ENST00000533371.5:c.58C>T	ENSP00000437066.1:p.Gln20Ter
ENST00000611494.4:c.787C>T	ENSP00000484546.1:p.Gln263Ter
NM_000391.3:c.787C>T	NP_000382.3:p.Gln263Ter
NM_000391.4:c.787C>T MANE Select	NP_000382.3:p.Gln263Ter