Canonical Allele Identifier: CA379475501

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638303T>G (hg19) ; chr11:g.6617072T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617072T>G , CM000673.2:g.6617072T>G	GRCh38
NC_000011.9:g.6638303T>G , CM000673.1:g.6638303T>G	GRCh37
NC_000011.8:g.6594879T>G	NCBI36
NG_008653.1:g.7390A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.476A>C	ENSP00000507321.1:p.His159Pro
ENST00000299427.12:c.590A>C MANE Select	ENSP00000299427.6:p.His197Pro
ENST00000428886.7:n.825A>C
ENST00000436873.7:c.312+229A>C
ENST00000524788.2:n.1749A>C
ENST00000524903.2:n.1865A>C
ENST00000528807.2:n.246A>C
ENST00000530040.2:n.479+287A>C
ENST00000533371.6:c.-140A>C	ENSP00000437066.1:n.-140A>C
ENST00000534644.6:n.538A>C
ENST00000642892.1:c.-140A>C	ENSP00000494165.1:n.-140A>C
ENST00000643439.1:c.*330A>C	ENSP00000495849.1:n.*330A>C
ENST00000643479.1:n.619A>C
ENST00000643516.1:c.395+229A>C
ENST00000644151.1:n.2029A>C
ENST00000644218.1:c.590A>C	ENSP00000493574.1:p.His197Pro
ENST00000644683.1:c.*43A>C	ENSP00000494085.1:n.*43A>C
ENST00000644810.1:c.311A>C	ENSP00000495895.1:p.His104Pro
ENST00000644831.1:n.766A>C
ENST00000644933.1:c.-140A>C	ENSP00000496133.1:n.-140A>C
ENST00000645020.1:n.1765A>C
ENST00000645285.1:c.-140A>C	ENSP00000495058.1:n.-140A>C
ENST00000645331.1:n.956A>C
ENST00000645620.1:c.-140A>C	ENSP00000493657.1:n.-140A>C
ENST00000646777.1:n.766A>C
ENST00000647016.1:n.1070A>C
ENST00000647152.1:c.-140A>C	ENSP00000495893.1:n.-140A>C
ENST00000647209.1:c.*459A>C	ENSP00000495558.1:n.*459A>C
ENST00000647346.1:n.1610A>C
ENST00000299427.10:c.590A>C	ENSP00000299427.6:p.His197Pro
ENST00000428886.6:n.759A>C
ENST00000436873.6:c.450+287A>C	ENSP00000398136.2:n.450+287A>C
ENST00000524788.1:n.290A>C
ENST00000528571.5:c.*330A>C	ENSP00000434647.1:n.*330A>C
ENST00000528807.1:n.140A>C
ENST00000533371.5:c.-140A>C	ENSP00000437066.1:n.-140A>C
ENST00000534644.5:n.575A>C
ENST00000611494.4:c.590A>C	ENSP00000484546.1:p.His197Pro
NM_000391.3:c.590A>C	NP_000382.3:p.His197Pro
NM_000391.4:c.590A>C MANE Select	NP_000382.3:p.His197Pro