Canonical Allele Identifier: CA379472835

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636557C>G (hg19) ; chr11:g.6615326C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615326C>G , CM000673.2:g.6615326C>G	GRCh38
NC_000011.9:g.6636557C>G , CM000673.1:g.6636557C>G	GRCh37
NC_000011.8:g.6593133C>G	NCBI36
NG_008653.1:g.9136G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1156G>C	ENSP00000507321.1:p.Glu386Gln
ENST00000299427.12:c.1270G>C MANE Select	ENSP00000299427.6:p.Glu424Gln
ENST00000436873.7:c.507G>C
ENST00000524611.2:n.130G>C
ENST00000524924.2:n.390G>C
ENST00000533371.6:c.541G>C	ENSP00000437066.1:p.Glu181Gln
ENST00000642892.1:c.541G>C	ENSP00000494165.1:p.Glu181Gln
ENST00000643342.1:c.343G>C
ENST00000643439.1:c.*1010G>C	ENSP00000495849.1:n.*1010G>C
ENST00000643479.1:n.1456G>C
ENST00000643516.1:c.779G>C
ENST00000644218.1:c.1081G>C	ENSP00000493574.1:p.Glu361Gln
ENST00000644683.1:c.*723G>C	ENSP00000494085.1:n.*723G>C
ENST00000644810.1:c.991G>C	ENSP00000495895.1:p.Glu331Gln
ENST00000644831.1:n.1446G>C
ENST00000644933.1:c.*136G>C	ENSP00000496133.1:n.*136G>C
ENST00000645285.1:c.*136G>C	ENSP00000495058.1:n.*136G>C
ENST00000645331.1:n.2475G>C
ENST00000645620.1:c.541G>C	ENSP00000493657.1:p.Glu181Gln
ENST00000646691.1:n.1157G>C
ENST00000646777.1:n.1603G>C
ENST00000647016.1:n.1750G>C
ENST00000647152.1:c.541G>C	ENSP00000495893.1:p.Glu181Gln
ENST00000647209.1:c.*1139G>C	ENSP00000495558.1:n.*1139G>C
ENST00000647346.1:n.2290G>C
ENST00000299427.10:c.1270G>C	ENSP00000299427.6:p.Glu424Gln
ENST00000524611.1:n.148G>C
ENST00000524924.1:n.225G>C
ENST00000532191.1:n.323G>C
ENST00000533371.5:c.541G>C	ENSP00000437066.1:p.Glu181Gln
ENST00000611494.4:c.1270G>C	ENSP00000484546.1:p.Glu424Gln
NM_000391.3:c.1270G>C	NP_000382.3:p.Glu424Gln
NM_000391.4:c.1270G>C MANE Select	NP_000382.3:p.Glu424Gln