Canonical Allele Identifier: CA379471945

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635793G>A (hg19) ; chr11:g.6614562G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614562G>A , CM000673.2:g.6614562G>A	GRCh38
NC_000011.9:g.6635793G>A , CM000673.1:g.6635793G>A	GRCh37
NC_000011.8:g.6592369G>A	NCBI36
NG_008653.1:g.9900C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1562C>T	ENSP00000507321.1:p.Thr521Ile
ENST00000299427.12:c.1676C>T MANE Select	ENSP00000299427.6:p.Thr559Ile
ENST00000524611.2:n.715C>T
ENST00000533371.6:c.947C>T	ENSP00000437066.1:p.Thr316Ile
ENST00000642892.1:c.947C>T	ENSP00000494165.1:p.Thr316Ile
ENST00000643342.1:c.749C>T
ENST00000643439.1:c.*1416C>T	ENSP00000495849.1:n.*1416C>T
ENST00000643479.1:n.1862C>T
ENST00000643516.1:c.1185C>T
ENST00000644218.1:c.1487C>T	ENSP00000493574.1:p.Thr496Ile
ENST00000644683.1:c.*1129C>T	ENSP00000494085.1:n.*1129C>T
ENST00000644810.1:c.1397C>T	ENSP00000495895.1:p.Thr466Ile
ENST00000644831.1:n.1852C>T
ENST00000644933.1:c.*542C>T	ENSP00000496133.1:n.*542C>T
ENST00000645285.1:c.*542C>T	ENSP00000495058.1:n.*542C>T
ENST00000645331.1:n.2881C>T
ENST00000645620.1:c.947C>T	ENSP00000493657.1:p.Thr316Ile
ENST00000646691.1:n.1563C>T
ENST00000646777.1:n.2009C>T
ENST00000647016.1:n.2156C>T
ENST00000647152.1:c.947C>T	ENSP00000495893.1:p.Thr316Ile
ENST00000647209.1:c.*1545C>T	ENSP00000495558.1:n.*1545C>T
ENST00000647346.1:n.2696C>T
ENST00000299427.10:c.1676C>T	ENSP00000299427.6:p.Thr559Ile
ENST00000533371.5:c.947C>T	ENSP00000437066.1:p.Thr316Ile
ENST00000611494.4:c.*4C>T	ENSP00000484546.1:n.*4C>T
NM_000391.3:c.1676C>T	NP_000382.3:p.Thr559Ile
NM_000391.4:c.1676C>T MANE Select	NP_000382.3:p.Thr559Ile