Canonical Allele Identifier: CA379475480

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638292T>C (hg19) ; chr11:g.6617061T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617061T>C , CM000673.2:g.6617061T>C	GRCh38
NC_000011.9:g.6638292T>C , CM000673.1:g.6638292T>C	GRCh37
NC_000011.8:g.6594868T>C	NCBI36
NG_008653.1:g.7401A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.487A>G	ENSP00000507321.1:p.Thr163Ala
ENST00000299427.12:c.601A>G MANE Select	ENSP00000299427.6:p.Thr201Ala
ENST00000436873.7:c.312+240A>G
ENST00000524788.2:n.1760A>G
ENST00000524903.2:n.1876A>G
ENST00000528807.2:n.257A>G
ENST00000530040.2:n.479+298A>G
ENST00000533371.6:c.-129A>G	ENSP00000437066.1:n.-129A>G
ENST00000534644.6:n.549A>G
ENST00000642892.1:c.-129A>G	ENSP00000494165.1:n.-129A>G
ENST00000643439.1:c.*341A>G	ENSP00000495849.1:n.*341A>G
ENST00000643479.1:n.630A>G
ENST00000643516.1:c.395+240A>G
ENST00000644151.1:n.2040A>G
ENST00000644218.1:c.601A>G	ENSP00000493574.1:p.Thr201Ala
ENST00000644683.1:c.*54A>G	ENSP00000494085.1:n.*54A>G
ENST00000644810.1:c.322A>G	ENSP00000495895.1:p.Thr108Ala
ENST00000644831.1:n.777A>G
ENST00000644933.1:c.-129A>G	ENSP00000496133.1:n.-129A>G
ENST00000645020.1:n.1776A>G
ENST00000645285.1:c.-129A>G	ENSP00000495058.1:n.-129A>G
ENST00000645331.1:n.967A>G
ENST00000645620.1:c.-129A>G	ENSP00000493657.1:n.-129A>G
ENST00000646777.1:n.777A>G
ENST00000647016.1:n.1081A>G
ENST00000647152.1:c.-129A>G	ENSP00000495893.1:n.-129A>G
ENST00000647209.1:c.*470A>G	ENSP00000495558.1:n.*470A>G
ENST00000647346.1:n.1621A>G
ENST00000299427.10:c.601A>G	ENSP00000299427.6:p.Thr201Ala
ENST00000428886.6:n.770A>G
ENST00000436873.6:c.450+298A>G	ENSP00000398136.2:n.450+298A>G
ENST00000524788.1:n.301A>G
ENST00000528571.5:c.*341A>G	ENSP00000434647.1:n.*341A>G
ENST00000528807.1:n.151A>G
ENST00000533371.5:c.-129A>G	ENSP00000437066.1:n.-129A>G
ENST00000534644.5:n.586A>G
ENST00000611494.4:c.601A>G	ENSP00000484546.1:p.Thr201Ala
NM_000391.3:c.601A>G	NP_000382.3:p.Thr201Ala
NM_000391.4:c.601A>G MANE Select	NP_000382.3:p.Thr201Ala