Canonical Allele Identifier: CA379473061

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636755T>A (hg19) ; chr11:g.6615524T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615524T>A , CM000673.2:g.6615524T>A	GRCh38
NC_000011.9:g.6636755T>A , CM000673.1:g.6636755T>A	GRCh37
NC_000011.8:g.6593331T>A	NCBI36
NG_008653.1:g.8938A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1070A>T	ENSP00000507321.1:p.Glu357Val
ENST00000299427.12:c.1184A>T MANE Select	ENSP00000299427.6:p.Glu395Val
ENST00000436873.7:c.421A>T
ENST00000524924.2:n.304A>T
ENST00000533371.6:c.455A>T	ENSP00000437066.1:p.Glu152Val
ENST00000642892.1:c.455A>T	ENSP00000494165.1:p.Glu152Val
ENST00000643342.1:c.257A>T
ENST00000643439.1:c.*924A>T	ENSP00000495849.1:n.*924A>T
ENST00000643479.1:n.1370A>T
ENST00000643516.1:c.693A>T
ENST00000644218.1:c.995A>T	ENSP00000493574.1:p.Glu332Val
ENST00000644683.1:c.*637A>T	ENSP00000494085.1:n.*637A>T
ENST00000644810.1:c.905A>T	ENSP00000495895.1:p.Glu302Val
ENST00000644831.1:n.1360A>T
ENST00000644933.1:c.*50A>T	ENSP00000496133.1:n.*50A>T
ENST00000645285.1:c.*50A>T	ENSP00000495058.1:n.*50A>T
ENST00000645331.1:n.2389A>T
ENST00000645620.1:c.455A>T	ENSP00000493657.1:p.Glu152Val
ENST00000646691.1:n.959A>T
ENST00000646777.1:n.1517A>T
ENST00000647016.1:n.1664A>T
ENST00000647152.1:c.455A>T	ENSP00000495893.1:p.Glu152Val
ENST00000647209.1:c.*1053A>T	ENSP00000495558.1:n.*1053A>T
ENST00000647346.1:n.2204A>T
ENST00000299427.10:c.1184A>T	ENSP00000299427.6:p.Glu395Val
ENST00000524924.1:n.139A>T
ENST00000532191.1:n.237A>T
ENST00000533371.5:c.455A>T	ENSP00000437066.1:p.Glu152Val
ENST00000611494.4:c.1184A>T	ENSP00000484546.1:p.Glu395Val
NM_000391.3:c.1184A>T	NP_000382.3:p.Glu395Val
NM_000391.4:c.1184A>T MANE Select	NP_000382.3:p.Glu395Val