Canonical Allele Identifier: CA379472829

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636555T>G (hg19) ; chr11:g.6615324T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615324T>G , CM000673.2:g.6615324T>G	GRCh38
NC_000011.9:g.6636555T>G , CM000673.1:g.6636555T>G	GRCh37
NC_000011.8:g.6593131T>G	NCBI36
NG_008653.1:g.9138A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1158A>C	ENSP00000507321.1:p.Glu386Asp
ENST00000299427.12:c.1272A>C MANE Select	ENSP00000299427.6:p.Glu424Asp
ENST00000436873.7:c.509A>C
ENST00000524611.2:n.132A>C
ENST00000524924.2:n.392A>C
ENST00000533371.6:c.543A>C	ENSP00000437066.1:p.Glu181Asp
ENST00000642892.1:c.543A>C	ENSP00000494165.1:p.Glu181Asp
ENST00000643342.1:c.345A>C
ENST00000643439.1:c.*1012A>C	ENSP00000495849.1:n.*1012A>C
ENST00000643479.1:n.1458A>C
ENST00000643516.1:c.781A>C
ENST00000644218.1:c.1083A>C	ENSP00000493574.1:p.Glu361Asp
ENST00000644683.1:c.*725A>C	ENSP00000494085.1:n.*725A>C
ENST00000644810.1:c.993A>C	ENSP00000495895.1:p.Glu331Asp
ENST00000644831.1:n.1448A>C
ENST00000644933.1:c.*138A>C	ENSP00000496133.1:n.*138A>C
ENST00000645285.1:c.*138A>C	ENSP00000495058.1:n.*138A>C
ENST00000645331.1:n.2477A>C
ENST00000645620.1:c.543A>C	ENSP00000493657.1:p.Glu181Asp
ENST00000646691.1:n.1159A>C
ENST00000646777.1:n.1605A>C
ENST00000647016.1:n.1752A>C
ENST00000647152.1:c.543A>C	ENSP00000495893.1:p.Glu181Asp
ENST00000647209.1:c.*1141A>C	ENSP00000495558.1:n.*1141A>C
ENST00000647346.1:n.2292A>C
ENST00000299427.10:c.1272A>C	ENSP00000299427.6:p.Glu424Asp
ENST00000524611.1:n.150A>C
ENST00000524924.1:n.227A>C
ENST00000532191.1:n.325A>C
ENST00000533371.5:c.543A>C	ENSP00000437066.1:p.Glu181Asp
ENST00000611494.4:c.1272A>C	ENSP00000484546.1:p.Glu424Asp
NM_000391.3:c.1272A>C	NP_000382.3:p.Glu424Asp
NM_000391.4:c.1272A>C MANE Select	NP_000382.3:p.Glu424Asp