Canonical Allele Identifier: CA379475885

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638599T>G (hg19) ; chr11:g.6617368T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617368T>G , CM000673.2:g.6617368T>G	GRCh38
NC_000011.9:g.6638599T>G , CM000673.1:g.6638599T>G	GRCh37
NC_000011.8:g.6595175T>G	NCBI36
NG_008653.1:g.7094A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.327A>C	ENSP00000507321.1:p.Glu109Asp
ENST00000299427.12:c.441A>C MANE Select	ENSP00000299427.6:p.Glu147Asp
ENST00000428886.7:n.529A>C
ENST00000436873.7:c.245A>C
ENST00000524788.2:n.1453A>C
ENST00000524903.2:n.1569A>C
ENST00000528571.6:c.*181A>C	ENSP00000434647.1:n.*181A>C
ENST00000528807.2:n.97A>C
ENST00000530040.2:n.470A>C
ENST00000533371.6:c.-289A>C	ENSP00000437066.1:n.-289A>C
ENST00000534644.6:n.442A>C
ENST00000642892.1:c.-236A>C	ENSP00000494165.1:n.-236A>C
ENST00000643439.1:c.*181A>C	ENSP00000495849.1:n.*181A>C
ENST00000643479.1:n.470A>C
ENST00000643516.1:c.328A>C
ENST00000644151.1:n.1733A>C
ENST00000644218.1:c.441A>C	ENSP00000493574.1:p.Glu147Asp
ENST00000644683.1:c.441A>C	ENSP00000494085.1:p.Glu147Asp
ENST00000644810.1:c.230-215A>C	ENSP00000495895.1:n.230-215A>C
ENST00000644831.1:n.470A>C
ENST00000644933.1:c.-289A>C	ENSP00000496133.1:n.-289A>C
ENST00000645020.1:n.1469A>C
ENST00000645285.1:c.-289A>C	ENSP00000495058.1:n.-289A>C
ENST00000645331.1:n.660A>C
ENST00000645620.1:c.-231A>C	ENSP00000493657.1:n.-231A>C
ENST00000646777.1:n.470A>C
ENST00000647016.1:n.774A>C
ENST00000647152.1:c.-289A>C	ENSP00000495893.1:n.-289A>C
ENST00000647209.1:c.*310A>C	ENSP00000495558.1:n.*310A>C
ENST00000647346.1:n.1461A>C
ENST00000299427.10:c.441A>C	ENSP00000299427.6:p.Glu147Asp
ENST00000428886.6:n.463A>C
ENST00000436873.6:c.441A>C	ENSP00000398136.2:p.Glu147Asp
ENST00000528571.5:c.*181A>C	ENSP00000434647.1:n.*181A>C
ENST00000533371.5:c.-289A>C	ENSP00000437066.1:n.-289A>C
ENST00000534644.5:n.426A>C
ENST00000611494.4:c.441A>C	ENSP00000484546.1:p.Glu147Asp
NM_000391.3:c.441A>C	NP_000382.3:p.Glu147Asp
NM_000391.4:c.441A>C MANE Select	NP_000382.3:p.Glu147Asp