Canonical Allele Identifier: CA379475886

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638600T>A (hg19) ; chr11:g.6617369T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617369T>A , CM000673.2:g.6617369T>A	GRCh38
NC_000011.9:g.6638600T>A , CM000673.1:g.6638600T>A	GRCh37
NC_000011.8:g.6595176T>A	NCBI36
NG_008653.1:g.7093A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.326A>T	ENSP00000507321.1:p.Glu109Val
ENST00000299427.12:c.440A>T MANE Select	ENSP00000299427.6:p.Glu147Val
ENST00000428886.7:n.528A>T
ENST00000436873.7:c.244A>T
ENST00000524788.2:n.1452A>T
ENST00000524903.2:n.1568A>T
ENST00000528571.6:c.*180A>T	ENSP00000434647.1:n.*180A>T
ENST00000528807.2:n.96A>T
ENST00000530040.2:n.469A>T
ENST00000533371.6:c.-290A>T	ENSP00000437066.1:n.-290A>T
ENST00000534644.6:n.441A>T
ENST00000642892.1:c.-237A>T	ENSP00000494165.1:n.-237A>T
ENST00000643439.1:c.*180A>T	ENSP00000495849.1:n.*180A>T
ENST00000643479.1:n.469A>T
ENST00000643516.1:c.327A>T
ENST00000644151.1:n.1732A>T
ENST00000644218.1:c.440A>T	ENSP00000493574.1:p.Glu147Val
ENST00000644683.1:c.440A>T	ENSP00000494085.1:p.Glu147Val
ENST00000644810.1:c.230-216A>T	ENSP00000495895.1:n.230-216A>T
ENST00000644831.1:n.469A>T
ENST00000644933.1:c.-290A>T	ENSP00000496133.1:n.-290A>T
ENST00000645020.1:n.1468A>T
ENST00000645285.1:c.-290A>T	ENSP00000495058.1:n.-290A>T
ENST00000645331.1:n.659A>T
ENST00000645620.1:c.-232A>T	ENSP00000493657.1:n.-232A>T
ENST00000646777.1:n.469A>T
ENST00000647016.1:n.773A>T
ENST00000647152.1:c.-290A>T	ENSP00000495893.1:n.-290A>T
ENST00000647209.1:c.*309A>T	ENSP00000495558.1:n.*309A>T
ENST00000647346.1:n.1460A>T
ENST00000299427.10:c.440A>T	ENSP00000299427.6:p.Glu147Val
ENST00000428886.6:n.462A>T
ENST00000436873.6:c.440A>T	ENSP00000398136.2:p.Glu147Val
ENST00000528571.5:c.*180A>T	ENSP00000434647.1:n.*180A>T
ENST00000533371.5:c.-290A>T	ENSP00000437066.1:n.-290A>T
ENST00000534644.5:n.425A>T
ENST00000611494.4:c.440A>T	ENSP00000484546.1:p.Glu147Val
NM_000391.3:c.440A>T	NP_000382.3:p.Glu147Val
NM_000391.4:c.440A>T MANE Select	NP_000382.3:p.Glu147Val