Canonical Allele Identifier: CA379475063

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616757G>A , CM000673.2:g.6616757G>A	GRCh38
NC_000011.9:g.6637988G>A , CM000673.1:g.6637988G>A	GRCh37
NC_000011.8:g.6594564G>A	NCBI36
NG_008653.1:g.7705C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000391.4:c.790C>T MANE Select	NP_000382.3:p.Gln264Ter
ENST00000299427.12:c.790C>T MANE Select	ENSP00000299427.6:p.Gln264Ter
NM_000391.3:c.790C>T	NP_000382.3:p.Gln264Ter
ENST00000299427.10:c.790C>T	ENSP00000299427.6:p.Gln264Ter
ENST00000436873.6:c.451-254C>T	ENSP00000398136.2:n.451-254C>T
ENST00000436873.7:c.312+544C>T
ENST00000524788.1:n.490C>T
ENST00000524788.2:n.1949C>T
ENST00000524903.2:n.2065C>T
ENST00000528807.1:n.340C>T
ENST00000528807.2:n.446C>T
ENST00000530040.2:n.480-254C>T
ENST00000533371.5:c.61C>T	ENSP00000437066.1:p.Gln21Ter
ENST00000533371.6:c.61C>T	ENSP00000437066.1:p.Gln21Ter
ENST00000611494.4:c.790C>T	ENSP00000484546.1:p.Gln264Ter
ENST00000642892.1:c.61C>T	ENSP00000494165.1:p.Gln21Ter
ENST00000643439.1:c.*530C>T	ENSP00000495849.1:n.*530C>T
ENST00000643479.1:n.819C>T
ENST00000643516.1:c.396-254C>T
ENST00000644151.1:n.2229C>T
ENST00000644218.1:c.790C>T	ENSP00000493574.1:p.Gln264Ter
ENST00000644683.1:c.*243C>T	ENSP00000494085.1:n.*243C>T
ENST00000644810.1:c.511C>T	ENSP00000495895.1:p.Gln171Ter
ENST00000644831.1:n.966C>T
ENST00000644933.1:c.61C>T	ENSP00000496133.1:p.Gln21Ter
ENST00000645020.1:n.2080C>T
ENST00000645285.1:c.61C>T	ENSP00000495058.1:p.Gln21Ter
ENST00000645331.1:n.1156C>T
ENST00000645620.1:c.61C>T	ENSP00000493657.1:p.Gln21Ter
ENST00000646777.1:n.966C>T
ENST00000647016.1:n.1270C>T
ENST00000647152.1:c.61C>T	ENSP00000495893.1:p.Gln21Ter
ENST00000647209.1:c.*659C>T	ENSP00000495558.1:n.*659C>T
ENST00000647346.1:n.1810C>T
ENST00000682424.1:c.676C>T	ENSP00000507321.1:p.Gln226Ter