Canonical Allele Identifier: CA379475644

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638376G>T (hg19) ; chr11:g.6617145G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617145G>T , CM000673.2:g.6617145G>T	GRCh38
NC_000011.9:g.6638376G>T , CM000673.1:g.6638376G>T	GRCh37
NC_000011.8:g.6594952G>T	NCBI36
NG_008653.1:g.7317C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.403C>A	ENSP00000507321.1:p.Leu135Met
ENST00000299427.12:c.517C>A MANE Select	ENSP00000299427.6:p.Leu173Met
ENST00000428886.7:n.752C>A
ENST00000436873.7:c.312+156C>A
ENST00000524788.2:n.1676C>A
ENST00000524903.2:n.1792C>A
ENST00000528807.2:n.173C>A
ENST00000530040.2:n.479+214C>A
ENST00000533371.6:c.-213C>A	ENSP00000437066.1:n.-213C>A
ENST00000534644.6:n.465C>A
ENST00000642892.1:c.-213C>A	ENSP00000494165.1:n.-213C>A
ENST00000643439.1:c.*257C>A	ENSP00000495849.1:n.*257C>A
ENST00000643479.1:n.546C>A
ENST00000643516.1:c.395+156C>A
ENST00000644151.1:n.1956C>A
ENST00000644218.1:c.517C>A	ENSP00000493574.1:p.Leu173Met
ENST00000644683.1:c.459C>A	ENSP00000494085.1:p.Asp153Glu
ENST00000644810.1:c.238C>A	ENSP00000495895.1:p.Leu80Met
ENST00000644831.1:n.693C>A
ENST00000644933.1:c.-213C>A	ENSP00000496133.1:n.-213C>A
ENST00000645020.1:n.1692C>A
ENST00000645285.1:c.-213C>A	ENSP00000495058.1:n.-213C>A
ENST00000645331.1:n.883C>A
ENST00000645620.1:c.-213C>A	ENSP00000493657.1:n.-213C>A
ENST00000646777.1:n.693C>A
ENST00000647016.1:n.997C>A
ENST00000647152.1:c.-213C>A	ENSP00000495893.1:n.-213C>A
ENST00000647209.1:c.*386C>A	ENSP00000495558.1:n.*386C>A
ENST00000647346.1:n.1537C>A
ENST00000299427.10:c.517C>A	ENSP00000299427.6:p.Leu173Met
ENST00000428886.6:n.686C>A
ENST00000436873.6:c.450+214C>A	ENSP00000398136.2:n.450+214C>A
ENST00000524788.1:n.217C>A
ENST00000528571.5:c.*257C>A	ENSP00000434647.1:n.*257C>A
ENST00000528807.1:n.67C>A
ENST00000533371.5:c.-213C>A	ENSP00000437066.1:n.-213C>A
ENST00000534644.5:n.502C>A
ENST00000611494.4:c.517C>A	ENSP00000484546.1:p.Leu173Met
NM_000391.3:c.517C>A	NP_000382.3:p.Leu173Met
NM_000391.4:c.517C>A MANE Select	NP_000382.3:p.Leu173Met