Canonical Allele Identifier: CA472772170

Gene: TPP1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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