Canonical Allele Identifier: CA472772166

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636781G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615550G>T , CM000673.2:g.6615550G>T	GRCh38
NC_000011.9:g.6636781G>T , CM000673.1:g.6636781G>T	GRCh37
NC_000011.8:g.6593357G>T	NCBI36
NG_008653.1:g.8912C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1044C>A	ENSP00000507321.1:p.Thr348=
ENST00000299427.12:c.1158C>A MANE Select	ENSP00000299427.6:p.Thr386=
ENST00000436873.7:c.395C>A
ENST00000524924.2:n.278C>A
ENST00000533371.6:c.429C>A	ENSP00000437066.1:p.Thr143=
ENST00000642892.1:c.429C>A	ENSP00000494165.1:p.Thr143=
ENST00000643342.1:c.236-5C>A
ENST00000643439.1:c.*898C>A	ENSP00000495849.1:n.*898C>A
ENST00000643479.1:n.1344C>A
ENST00000643516.1:c.667C>A
ENST00000644218.1:c.969C>A	ENSP00000493574.1:p.Thr323=
ENST00000644683.1:c.*611C>A	ENSP00000494085.1:n.*611C>A
ENST00000644810.1:c.879C>A	ENSP00000495895.1:p.Thr293=
ENST00000644831.1:n.1334C>A
ENST00000644933.1:c.*24C>A	ENSP00000496133.1:n.*24C>A
ENST00000645285.1:c.*24C>A	ENSP00000495058.1:n.*24C>A
ENST00000645331.1:n.2363C>A
ENST00000645620.1:c.429C>A	ENSP00000493657.1:p.Thr143=
ENST00000646691.1:n.933C>A
ENST00000646777.1:n.1491C>A
ENST00000647016.1:n.1638C>A
ENST00000647152.1:c.429C>A	ENSP00000495893.1:p.Thr143=
ENST00000647209.1:c.*1027C>A	ENSP00000495558.1:n.*1027C>A
ENST00000647346.1:n.2178C>A
ENST00000299427.10:c.1158C>A	ENSP00000299427.6:p.Thr386=
ENST00000524924.1:n.113C>A
ENST00000532191.1:n.211C>A
ENST00000533371.5:c.429C>A	ENSP00000437066.1:p.Thr143=
ENST00000611494.4:c.1158C>A	ENSP00000484546.1:p.Thr386=
NM_000391.3:c.1158C>A	NP_000382.3:p.Thr386=
NM_000391.4:c.1158C>A MANE Select	NP_000382.3:p.Thr386=