Canonical Allele Identifier: CA379472297

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614892G>A , CM000673.2:g.6614892G>A	GRCh38
NC_000011.9:g.6636123G>A , CM000673.1:g.6636123G>A	GRCh37
NC_000011.8:g.6592699G>A	NCBI36
NG_008653.1:g.9570C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000391.4:c.1525C>T MANE Select	NP_000382.3:p.Gln509Ter
ENST00000299427.12:c.1525C>T MANE Select	ENSP00000299427.6:p.Gln509Ter
NM_000391.3:c.1525C>T	NP_000382.3:p.Gln509Ter
ENST00000299427.10:c.1525C>T	ENSP00000299427.6:p.Gln509Ter
ENST00000524611.1:n.403C>T
ENST00000524611.2:n.385C>T
ENST00000524924.2:n.645C>T
ENST00000533371.5:c.796C>T	ENSP00000437066.1:p.Gln266Ter
ENST00000533371.6:c.796C>T	ENSP00000437066.1:p.Gln266Ter
ENST00000611494.4:c.1525C>T	ENSP00000484546.1:p.Gln509Ter
ENST00000642892.1:c.796C>T	ENSP00000494165.1:p.Gln266Ter
ENST00000643342.1:c.598C>T
ENST00000643439.1:c.*1265C>T	ENSP00000495849.1:n.*1265C>T
ENST00000643479.1:n.1711C>T
ENST00000643516.1:c.1034C>T
ENST00000644218.1:c.1336C>T	ENSP00000493574.1:p.Gln446Ter
ENST00000644683.1:c.*978C>T	ENSP00000494085.1:n.*978C>T
ENST00000644810.1:c.1246C>T	ENSP00000495895.1:p.Gln416Ter
ENST00000644831.1:n.1701C>T
ENST00000644933.1:c.*391C>T	ENSP00000496133.1:n.*391C>T
ENST00000645285.1:c.*391C>T	ENSP00000495058.1:n.*391C>T
ENST00000645331.1:n.2730C>T
ENST00000645620.1:c.796C>T	ENSP00000493657.1:p.Gln266Ter
ENST00000646691.1:n.1412C>T
ENST00000646777.1:n.1858C>T
ENST00000647016.1:n.2005C>T
ENST00000647152.1:c.796C>T	ENSP00000495893.1:p.Gln266Ter
ENST00000647209.1:c.*1394C>T	ENSP00000495558.1:n.*1394C>T
ENST00000647346.1:n.2545C>T
ENST00000682424.1:c.1411C>T	ENSP00000507321.1:p.Gln471Ter