Canonical Allele Identifier: CA472771280

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636555T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615324T>C , CM000673.2:g.6615324T>C	GRCh38
NC_000011.9:g.6636555T>C , CM000673.1:g.6636555T>C	GRCh37
NC_000011.8:g.6593131T>C	NCBI36
NG_008653.1:g.9138A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1158A>G	ENSP00000507321.1:p.Glu386=
ENST00000299427.12:c.1272A>G MANE Select	ENSP00000299427.6:p.Glu424=
ENST00000436873.7:c.509A>G
ENST00000524611.2:n.132A>G
ENST00000524924.2:n.392A>G
ENST00000533371.6:c.543A>G	ENSP00000437066.1:p.Glu181=
ENST00000642892.1:c.543A>G	ENSP00000494165.1:p.Glu181=
ENST00000643342.1:c.345A>G
ENST00000643439.1:c.*1012A>G	ENSP00000495849.1:n.*1012A>G
ENST00000643479.1:n.1458A>G
ENST00000643516.1:c.781A>G
ENST00000644218.1:c.1083A>G	ENSP00000493574.1:p.Glu361=
ENST00000644683.1:c.*725A>G	ENSP00000494085.1:n.*725A>G
ENST00000644810.1:c.993A>G	ENSP00000495895.1:p.Glu331=
ENST00000644831.1:n.1448A>G
ENST00000644933.1:c.*138A>G	ENSP00000496133.1:n.*138A>G
ENST00000645285.1:c.*138A>G	ENSP00000495058.1:n.*138A>G
ENST00000645331.1:n.2477A>G
ENST00000645620.1:c.543A>G	ENSP00000493657.1:p.Glu181=
ENST00000646691.1:n.1159A>G
ENST00000646777.1:n.1605A>G
ENST00000647016.1:n.1752A>G
ENST00000647152.1:c.543A>G	ENSP00000495893.1:p.Glu181=
ENST00000647209.1:c.*1141A>G	ENSP00000495558.1:n.*1141A>G
ENST00000647346.1:n.2292A>G
ENST00000299427.10:c.1272A>G	ENSP00000299427.6:p.Glu424=
ENST00000524611.1:n.150A>G
ENST00000524924.1:n.227A>G
ENST00000532191.1:n.325A>G
ENST00000533371.5:c.543A>G	ENSP00000437066.1:p.Glu181=
ENST00000611494.4:c.1272A>G	ENSP00000484546.1:p.Glu424=
NM_000391.3:c.1272A>G	NP_000382.3:p.Glu424=
NM_000391.4:c.1272A>G MANE Select	NP_000382.3:p.Glu424=