Canonical Allele Identifier: CA379476245

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638894T>A (hg19) ; chr11:g.6617663T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617663T>A , CM000673.2:g.6617663T>A	GRCh38
NC_000011.9:g.6638894T>A , CM000673.1:g.6638894T>A	GRCh37
NC_000011.8:g.6595470T>A	NCBI36
NG_008653.1:g.6799A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.229A>T	ENSP00000507321.1:p.Ile77Phe
ENST00000299427.12:c.343A>T MANE Select	ENSP00000299427.6:p.Ile115Phe
ENST00000428886.7:n.431A>T
ENST00000436873.7:c.147A>T
ENST00000524788.2:n.1355A>T
ENST00000524903.2:n.1471A>T
ENST00000528571.6:c.*83A>T	ENSP00000434647.1:n.*83A>T
ENST00000530040.2:n.372A>T
ENST00000533371.6:c.-387A>T	ENSP00000437066.1:n.-387A>T
ENST00000534644.6:n.344A>T
ENST00000642892.1:c.-334A>T	ENSP00000494165.1:n.-334A>T
ENST00000643439.1:c.*83A>T	ENSP00000495849.1:n.*83A>T
ENST00000643479.1:n.372A>T
ENST00000643516.1:c.230A>T
ENST00000644151.1:n.1635A>T
ENST00000644218.1:c.343A>T	ENSP00000493574.1:p.Ile115Phe
ENST00000644683.1:c.343A>T	ENSP00000494085.1:p.Ile115Phe
ENST00000644810.1:c.230-510A>T	ENSP00000495895.1:n.230-510A>T
ENST00000644831.1:n.372A>T
ENST00000644933.1:c.-387A>T	ENSP00000496133.1:n.-387A>T
ENST00000645020.1:n.1371A>T
ENST00000645285.1:c.-387A>T	ENSP00000495058.1:n.-387A>T
ENST00000645331.1:n.365A>T
ENST00000645620.1:c.-329A>T	ENSP00000493657.1:n.-329A>T
ENST00000646777.1:n.372A>T
ENST00000647016.1:n.676A>T
ENST00000647152.1:c.-387A>T	ENSP00000495893.1:n.-387A>T
ENST00000647209.1:c.*212A>T	ENSP00000495558.1:n.*212A>T
ENST00000647346.1:n.1363A>T
ENST00000299427.10:c.343A>T	ENSP00000299427.6:p.Ile115Phe
ENST00000428886.6:n.365A>T
ENST00000436873.6:c.343A>T	ENSP00000398136.2:p.Ile115Phe
ENST00000528571.5:c.*83A>T	ENSP00000434647.1:n.*83A>T
ENST00000530040.1:n.455A>T
ENST00000533371.5:c.-387A>T	ENSP00000437066.1:n.-387A>T
ENST00000534644.5:n.328A>T
ENST00000611494.4:c.343A>T	ENSP00000484546.1:p.Ile115Phe
NM_000391.3:c.343A>T	NP_000382.3:p.Ile115Phe
NM_000391.4:c.343A>T MANE Select	NP_000382.3:p.Ile115Phe