Canonical Allele Identifier: CA379475119

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616787G>A , CM000673.2:g.6616787G>A	GRCh38
NC_000011.9:g.6638018G>A , CM000673.1:g.6638018G>A	GRCh37
NC_000011.8:g.6594594G>A	NCBI36
NG_008653.1:g.7675C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000391.4:c.760C>T MANE Select	NP_000382.3:p.Gln254Ter
ENST00000299427.12:c.760C>T MANE Select	ENSP00000299427.6:p.Gln254Ter
NM_000391.3:c.760C>T	NP_000382.3:p.Gln254Ter
ENST00000299427.10:c.760C>T	ENSP00000299427.6:p.Gln254Ter
ENST00000436873.6:c.451-284C>T	ENSP00000398136.2:n.451-284C>T
ENST00000436873.7:c.312+514C>T
ENST00000524788.1:n.460C>T
ENST00000524788.2:n.1919C>T
ENST00000524903.2:n.2035C>T
ENST00000528807.1:n.310C>T
ENST00000528807.2:n.416C>T
ENST00000530040.2:n.480-284C>T
ENST00000533371.5:c.31C>T	ENSP00000437066.1:p.Gln11Ter
ENST00000533371.6:c.31C>T	ENSP00000437066.1:p.Gln11Ter
ENST00000611494.4:c.760C>T	ENSP00000484546.1:p.Gln254Ter
ENST00000642892.1:c.31C>T	ENSP00000494165.1:p.Gln11Ter
ENST00000643439.1:c.*500C>T	ENSP00000495849.1:n.*500C>T
ENST00000643479.1:n.789C>T
ENST00000643516.1:c.396-284C>T
ENST00000644151.1:n.2199C>T
ENST00000644218.1:c.760C>T	ENSP00000493574.1:p.Gln254Ter
ENST00000644683.1:c.*213C>T	ENSP00000494085.1:n.*213C>T
ENST00000644810.1:c.481C>T	ENSP00000495895.1:p.Gln161Ter
ENST00000644831.1:n.936C>T
ENST00000644933.1:c.31C>T	ENSP00000496133.1:p.Gln11Ter
ENST00000645020.1:n.2050C>T
ENST00000645285.1:c.31C>T	ENSP00000495058.1:p.Gln11Ter
ENST00000645331.1:n.1126C>T
ENST00000645620.1:c.31C>T	ENSP00000493657.1:p.Gln11Ter
ENST00000646777.1:n.936C>T
ENST00000647016.1:n.1240C>T
ENST00000647152.1:c.31C>T	ENSP00000495893.1:p.Gln11Ter
ENST00000647209.1:c.*629C>T	ENSP00000495558.1:n.*629C>T
ENST00000647346.1:n.1780C>T
ENST00000682424.1:c.646C>T	ENSP00000507321.1:p.Gln216Ter