Canonical Allele Identifier: CA379473070

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636756C>T (hg19) ; chr11:g.6615525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615525C>T , CM000673.2:g.6615525C>T	GRCh38
NC_000011.9:g.6636756C>T , CM000673.1:g.6636756C>T	GRCh37
NC_000011.8:g.6593332C>T	NCBI36
NG_008653.1:g.8937G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1069G>A	ENSP00000507321.1:p.Glu357Lys
ENST00000299427.12:c.1183G>A MANE Select	ENSP00000299427.6:p.Glu395Lys
ENST00000436873.7:c.420G>A
ENST00000524924.2:n.303G>A
ENST00000533371.6:c.454G>A	ENSP00000437066.1:p.Glu152Lys
ENST00000642892.1:c.454G>A	ENSP00000494165.1:p.Glu152Lys
ENST00000643342.1:c.256G>A
ENST00000643439.1:c.*923G>A	ENSP00000495849.1:n.*923G>A
ENST00000643479.1:n.1369G>A
ENST00000643516.1:c.692G>A
ENST00000644218.1:c.994G>A	ENSP00000493574.1:p.Glu332Lys
ENST00000644683.1:c.*636G>A	ENSP00000494085.1:n.*636G>A
ENST00000644810.1:c.904G>A	ENSP00000495895.1:p.Glu302Lys
ENST00000644831.1:n.1359G>A
ENST00000644933.1:c.*49G>A	ENSP00000496133.1:n.*49G>A
ENST00000645285.1:c.*49G>A	ENSP00000495058.1:n.*49G>A
ENST00000645331.1:n.2388G>A
ENST00000645620.1:c.454G>A	ENSP00000493657.1:p.Glu152Lys
ENST00000646691.1:n.958G>A
ENST00000646777.1:n.1516G>A
ENST00000647016.1:n.1663G>A
ENST00000647152.1:c.454G>A	ENSP00000495893.1:p.Glu152Lys
ENST00000647209.1:c.*1052G>A	ENSP00000495558.1:n.*1052G>A
ENST00000647346.1:n.2203G>A
ENST00000299427.10:c.1183G>A	ENSP00000299427.6:p.Glu395Lys
ENST00000524924.1:n.138G>A
ENST00000532191.1:n.236G>A
ENST00000533371.5:c.454G>A	ENSP00000437066.1:p.Glu152Lys
ENST00000611494.4:c.1183G>A	ENSP00000484546.1:p.Glu395Lys
NM_000391.3:c.1183G>A	NP_000382.3:p.Glu395Lys
NM_000391.4:c.1183G>A MANE Select	NP_000382.3:p.Glu395Lys