Canonical Allele Identifier: CA379472155

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635883T>G (hg19) ; chr11:g.6614652T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614652T>G , CM000673.2:g.6614652T>G	GRCh38
NC_000011.9:g.6635883T>G , CM000673.1:g.6635883T>G	GRCh37
NC_000011.8:g.6592459T>G	NCBI36
NG_008653.1:g.9810A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1472A>C	ENSP00000507321.1:p.Glu491Ala
ENST00000299427.12:c.1586A>C MANE Select	ENSP00000299427.6:p.Glu529Ala
ENST00000524611.2:n.625A>C
ENST00000524924.2:n.706A>C
ENST00000533371.6:c.857A>C	ENSP00000437066.1:p.Glu286Ala
ENST00000642892.1:c.857A>C	ENSP00000494165.1:p.Glu286Ala
ENST00000643342.1:c.659A>C
ENST00000643439.1:c.*1326A>C	ENSP00000495849.1:n.*1326A>C
ENST00000643479.1:n.1772A>C
ENST00000643516.1:c.1095A>C
ENST00000644218.1:c.1397A>C	ENSP00000493574.1:p.Glu466Ala
ENST00000644683.1:c.*1039A>C	ENSP00000494085.1:n.*1039A>C
ENST00000644810.1:c.1307A>C	ENSP00000495895.1:p.Glu436Ala
ENST00000644831.1:n.1762A>C
ENST00000644933.1:c.*452A>C	ENSP00000496133.1:n.*452A>C
ENST00000645285.1:c.*452A>C	ENSP00000495058.1:n.*452A>C
ENST00000645331.1:n.2791A>C
ENST00000645620.1:c.857A>C	ENSP00000493657.1:p.Glu286Ala
ENST00000646691.1:n.1473A>C
ENST00000646777.1:n.1919A>C
ENST00000647016.1:n.2066A>C
ENST00000647152.1:c.857A>C	ENSP00000495893.1:p.Glu286Ala
ENST00000647209.1:c.*1455A>C	ENSP00000495558.1:n.*1455A>C
ENST00000647346.1:n.2606A>C
ENST00000299427.10:c.1586A>C	ENSP00000299427.6:p.Glu529Ala
ENST00000524611.1:n.464A>C
ENST00000533371.5:c.857A>C	ENSP00000437066.1:p.Glu286Ala
ENST00000611494.4:c.1586A>C	ENSP00000484546.1:p.Glu529Ala
NM_000391.3:c.1586A>C	NP_000382.3:p.Glu529Ala
NM_000391.4:c.1586A>C MANE Select	NP_000382.3:p.Glu529Ala