Canonical Allele Identifier: CA379475435

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638268A>C (hg19) ; chr11:g.6617037A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617037A>C , CM000673.2:g.6617037A>C	GRCh38
NC_000011.9:g.6638268A>C , CM000673.1:g.6638268A>C	GRCh37
NC_000011.8:g.6594844A>C	NCBI36
NG_008653.1:g.7425T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.511T>G	ENSP00000507321.1:p.Tyr171Asp
ENST00000299427.12:c.625T>G MANE Select	ENSP00000299427.6:p.Tyr209Asp
ENST00000436873.7:c.312+264T>G
ENST00000524788.2:n.1784T>G
ENST00000524903.2:n.1900T>G
ENST00000528807.2:n.281T>G
ENST00000530040.2:n.479+322T>G
ENST00000533371.6:c.-105T>G	ENSP00000437066.1:n.-105T>G
ENST00000534644.6:n.573T>G
ENST00000642892.1:c.-105T>G	ENSP00000494165.1:n.-105T>G
ENST00000643439.1:c.*365T>G	ENSP00000495849.1:n.*365T>G
ENST00000643479.1:n.654T>G
ENST00000643516.1:c.395+264T>G
ENST00000644151.1:n.2064T>G
ENST00000644218.1:c.625T>G	ENSP00000493574.1:p.Tyr209Asp
ENST00000644683.1:c.*78T>G	ENSP00000494085.1:n.*78T>G
ENST00000644810.1:c.346T>G	ENSP00000495895.1:p.Tyr116Asp
ENST00000644831.1:n.801T>G
ENST00000644933.1:c.-105T>G	ENSP00000496133.1:n.-105T>G
ENST00000645020.1:n.1800T>G
ENST00000645285.1:c.-105T>G	ENSP00000495058.1:n.-105T>G
ENST00000645331.1:n.991T>G
ENST00000645620.1:c.-105T>G	ENSP00000493657.1:n.-105T>G
ENST00000646777.1:n.801T>G
ENST00000647016.1:n.1105T>G
ENST00000647152.1:c.-105T>G	ENSP00000495893.1:n.-105T>G
ENST00000647209.1:c.*494T>G	ENSP00000495558.1:n.*494T>G
ENST00000647346.1:n.1645T>G
ENST00000299427.10:c.625T>G	ENSP00000299427.6:p.Tyr209Asp
ENST00000428886.6:n.794T>G
ENST00000436873.6:c.450+322T>G	ENSP00000398136.2:n.450+322T>G
ENST00000524788.1:n.325T>G
ENST00000528571.5:c.*365T>G	ENSP00000434647.1:n.*365T>G
ENST00000528807.1:n.175T>G
ENST00000533371.5:c.-105T>G	ENSP00000437066.1:n.-105T>G
ENST00000534644.5:n.610T>G
ENST00000611494.4:c.625T>G	ENSP00000484546.1:p.Tyr209Asp
NM_000391.3:c.625T>G	NP_000382.3:p.Tyr209Asp
NM_000391.4:c.625T>G MANE Select	NP_000382.3:p.Tyr209Asp