Canonical Allele Identifier: CA379475284

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638089A>T (hg19) ; chr11:g.6616858A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616858A>T , CM000673.2:g.6616858A>T	GRCh38
NC_000011.9:g.6638089A>T , CM000673.1:g.6638089A>T	GRCh37
NC_000011.8:g.6594665A>T	NCBI36
NG_008653.1:g.7604T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.575T>A	ENSP00000507321.1:p.Phe192Tyr
ENST00000299427.12:c.689T>A MANE Select	ENSP00000299427.6:p.Phe230Tyr
ENST00000436873.7:c.312+443T>A
ENST00000524788.2:n.1848T>A
ENST00000524903.2:n.1964T>A
ENST00000528807.2:n.345T>A
ENST00000530040.2:n.480-355T>A
ENST00000533371.6:c.-41T>A	ENSP00000437066.1:n.-41T>A
ENST00000642892.1:c.-41T>A	ENSP00000494165.1:n.-41T>A
ENST00000643439.1:c.*429T>A	ENSP00000495849.1:n.*429T>A
ENST00000643479.1:n.718T>A
ENST00000643516.1:c.396-355T>A
ENST00000644151.1:n.2128T>A
ENST00000644218.1:c.689T>A	ENSP00000493574.1:p.Phe230Tyr
ENST00000644683.1:c.*142T>A	ENSP00000494085.1:n.*142T>A
ENST00000644810.1:c.410T>A	ENSP00000495895.1:p.Phe137Tyr
ENST00000644831.1:n.865T>A
ENST00000644933.1:c.-41T>A	ENSP00000496133.1:n.-41T>A
ENST00000645020.1:n.1979T>A
ENST00000645285.1:c.-41T>A	ENSP00000495058.1:n.-41T>A
ENST00000645331.1:n.1055T>A
ENST00000645620.1:c.-41T>A	ENSP00000493657.1:n.-41T>A
ENST00000646777.1:n.865T>A
ENST00000647016.1:n.1169T>A
ENST00000647152.1:c.-41T>A	ENSP00000495893.1:n.-41T>A
ENST00000647209.1:c.*558T>A	ENSP00000495558.1:n.*558T>A
ENST00000647346.1:n.1709T>A
ENST00000299427.10:c.689T>A	ENSP00000299427.6:p.Phe230Tyr
ENST00000436873.6:c.451-355T>A	ENSP00000398136.2:n.451-355T>A
ENST00000524788.1:n.389T>A
ENST00000528807.1:n.239T>A
ENST00000533371.5:c.-41T>A	ENSP00000437066.1:n.-41T>A
ENST00000611494.4:c.689T>A	ENSP00000484546.1:p.Phe230Tyr
NM_000391.3:c.689T>A	NP_000382.3:p.Phe230Tyr
NM_000391.4:c.689T>A MANE Select	NP_000382.3:p.Phe230Tyr