Canonical Allele Identifier: CA379475608

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638357G>C (hg19) ; chr11:g.6617126G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617126G>C , CM000673.2:g.6617126G>C	GRCh38
NC_000011.9:g.6638357G>C , CM000673.1:g.6638357G>C	GRCh37
NC_000011.8:g.6594933G>C	NCBI36
NG_008653.1:g.7336C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.422C>G	ENSP00000507321.1:p.Thr141Arg
ENST00000299427.12:c.536C>G MANE Select	ENSP00000299427.6:p.Thr179Arg
ENST00000428886.7:n.771C>G
ENST00000436873.7:c.312+175C>G
ENST00000524788.2:n.1695C>G
ENST00000524903.2:n.1811C>G
ENST00000528807.2:n.192C>G
ENST00000530040.2:n.479+233C>G
ENST00000533371.6:c.-194C>G	ENSP00000437066.1:n.-194C>G
ENST00000534644.6:n.484C>G
ENST00000642892.1:c.-194C>G	ENSP00000494165.1:n.-194C>G
ENST00000643439.1:c.*276C>G	ENSP00000495849.1:n.*276C>G
ENST00000643479.1:n.565C>G
ENST00000643516.1:c.395+175C>G
ENST00000644151.1:n.1975C>G
ENST00000644218.1:c.536C>G	ENSP00000493574.1:p.Thr179Arg
ENST00000644683.1:c.478C>G	ENSP00000494085.1:p.His160Asp
ENST00000644810.1:c.257C>G	ENSP00000495895.1:p.Thr86Arg
ENST00000644831.1:n.712C>G
ENST00000644933.1:c.-194C>G	ENSP00000496133.1:n.-194C>G
ENST00000645020.1:n.1711C>G
ENST00000645285.1:c.-194C>G	ENSP00000495058.1:n.-194C>G
ENST00000645331.1:n.902C>G
ENST00000645620.1:c.-194C>G	ENSP00000493657.1:n.-194C>G
ENST00000646777.1:n.712C>G
ENST00000647016.1:n.1016C>G
ENST00000647152.1:c.-194C>G	ENSP00000495893.1:n.-194C>G
ENST00000647209.1:c.*405C>G	ENSP00000495558.1:n.*405C>G
ENST00000647346.1:n.1556C>G
ENST00000299427.10:c.536C>G	ENSP00000299427.6:p.Thr179Arg
ENST00000428886.6:n.705C>G
ENST00000436873.6:c.450+233C>G	ENSP00000398136.2:n.450+233C>G
ENST00000524788.1:n.236C>G
ENST00000528571.5:c.*276C>G	ENSP00000434647.1:n.*276C>G
ENST00000528807.1:n.86C>G
ENST00000533371.5:c.-194C>G	ENSP00000437066.1:n.-194C>G
ENST00000534644.5:n.521C>G
ENST00000611494.4:c.536C>G	ENSP00000484546.1:p.Thr179Arg
NM_000391.3:c.536C>G	NP_000382.3:p.Thr179Arg
NM_000391.4:c.536C>G MANE Select	NP_000382.3:p.Thr179Arg