Canonical Allele Identifier: CA379475079

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637994C>T (hg19) ; chr11:g.6616763C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616763C>T , CM000673.2:g.6616763C>T	GRCh38
NC_000011.9:g.6637994C>T , CM000673.1:g.6637994C>T	GRCh37
NC_000011.8:g.6594570C>T	NCBI36
NG_008653.1:g.7699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.670G>A	ENSP00000507321.1:p.Gly224Arg
ENST00000299427.12:c.784G>A MANE Select	ENSP00000299427.6:p.Gly262Arg
ENST00000436873.7:c.312+538G>A
ENST00000524788.2:n.1943G>A
ENST00000524903.2:n.2059G>A
ENST00000528807.2:n.440G>A
ENST00000530040.2:n.480-260G>A
ENST00000533371.6:c.55G>A	ENSP00000437066.1:p.Gly19Arg
ENST00000642892.1:c.55G>A	ENSP00000494165.1:p.Gly19Arg
ENST00000643439.1:c.*524G>A	ENSP00000495849.1:n.*524G>A
ENST00000643479.1:n.813G>A
ENST00000643516.1:c.396-260G>A
ENST00000644151.1:n.2223G>A
ENST00000644218.1:c.784G>A	ENSP00000493574.1:p.Gly262Arg
ENST00000644683.1:c.*237G>A	ENSP00000494085.1:n.*237G>A
ENST00000644810.1:c.505G>A	ENSP00000495895.1:p.Gly169Arg
ENST00000644831.1:n.960G>A
ENST00000644933.1:c.55G>A	ENSP00000496133.1:p.Gly19Arg
ENST00000645020.1:n.2074G>A
ENST00000645285.1:c.55G>A	ENSP00000495058.1:p.Gly19Arg
ENST00000645331.1:n.1150G>A
ENST00000645620.1:c.55G>A	ENSP00000493657.1:p.Gly19Arg
ENST00000646777.1:n.960G>A
ENST00000647016.1:n.1264G>A
ENST00000647152.1:c.55G>A	ENSP00000495893.1:p.Gly19Arg
ENST00000647209.1:c.*653G>A	ENSP00000495558.1:n.*653G>A
ENST00000647346.1:n.1804G>A
ENST00000299427.10:c.784G>A	ENSP00000299427.6:p.Gly262Arg
ENST00000436873.6:c.451-260G>A	ENSP00000398136.2:n.451-260G>A
ENST00000524788.1:n.484G>A
ENST00000528807.1:n.334G>A
ENST00000533371.5:c.55G>A	ENSP00000437066.1:p.Gly19Arg
ENST00000611494.4:c.784G>A	ENSP00000484546.1:p.Gly262Arg
NM_000391.3:c.784G>A	NP_000382.3:p.Gly262Arg
NM_000391.4:c.784G>A MANE Select	NP_000382.3:p.Gly262Arg