Canonical Allele Identifier: CA379472521

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636410C>A (hg19) ; chr11:g.6615179C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615179C>A , CM000673.2:g.6615179C>A	GRCh38
NC_000011.9:g.6636410C>A , CM000673.1:g.6636410C>A	GRCh37
NC_000011.8:g.6592986C>A	NCBI36
NG_008653.1:g.9283G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1303G>T	ENSP00000507321.1:p.Gly435Ter
ENST00000299427.12:c.1417G>T MANE Select	ENSP00000299427.6:p.Gly473Ter
ENST00000524611.2:n.277G>T
ENST00000524924.2:n.537G>T
ENST00000533371.6:c.688G>T	ENSP00000437066.1:p.Gly230Ter
ENST00000642892.1:c.688G>T	ENSP00000494165.1:p.Gly230Ter
ENST00000643342.1:c.490G>T
ENST00000643439.1:c.*1157G>T	ENSP00000495849.1:n.*1157G>T
ENST00000643479.1:n.1603G>T
ENST00000643516.1:c.926G>T
ENST00000644218.1:c.1228G>T	ENSP00000493574.1:p.Gly410Ter
ENST00000644683.1:c.*870G>T	ENSP00000494085.1:n.*870G>T
ENST00000644810.1:c.1138G>T	ENSP00000495895.1:p.Gly380Ter
ENST00000644831.1:n.1593G>T
ENST00000644933.1:c.*283G>T	ENSP00000496133.1:n.*283G>T
ENST00000645285.1:c.*283G>T	ENSP00000495058.1:n.*283G>T
ENST00000645331.1:n.2622G>T
ENST00000645620.1:c.688G>T	ENSP00000493657.1:p.Gly230Ter
ENST00000646691.1:n.1304G>T
ENST00000646777.1:n.1750G>T
ENST00000647016.1:n.1897G>T
ENST00000647152.1:c.688G>T	ENSP00000495893.1:p.Gly230Ter
ENST00000647209.1:c.*1286G>T	ENSP00000495558.1:n.*1286G>T
ENST00000647346.1:n.2437G>T
ENST00000299427.10:c.1417G>T	ENSP00000299427.6:p.Gly473Ter
ENST00000524611.1:n.295G>T
ENST00000533371.5:c.688G>T	ENSP00000437066.1:p.Gly230Ter
ENST00000611494.4:c.1417G>T	ENSP00000484546.1:p.Gly473Ter
NM_000391.3:c.1417G>T	NP_000382.3:p.Gly473Ter
NM_000391.4:c.1417G>T MANE Select	NP_000382.3:p.Gly473Ter