Canonical Allele Identifier: CA472772052

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636766T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615535T>A , CM000673.2:g.6615535T>A	GRCh38
NC_000011.9:g.6636766T>A , CM000673.1:g.6636766T>A	GRCh37
NC_000011.8:g.6593342T>A	NCBI36
NG_008653.1:g.8927A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1059A>T	ENSP00000507321.1:p.Thr353=
ENST00000299427.12:c.1173A>T MANE Select	ENSP00000299427.6:p.Thr391=
ENST00000436873.7:c.410A>T
ENST00000524924.2:n.293A>T
ENST00000533371.6:c.444A>T	ENSP00000437066.1:p.Thr148=
ENST00000642892.1:c.444A>T	ENSP00000494165.1:p.Thr148=
ENST00000643342.1:c.246A>T
ENST00000643439.1:c.*913A>T	ENSP00000495849.1:n.*913A>T
ENST00000643479.1:n.1359A>T
ENST00000643516.1:c.682A>T
ENST00000644218.1:c.984A>T	ENSP00000493574.1:p.Thr328=
ENST00000644683.1:c.*626A>T	ENSP00000494085.1:n.*626A>T
ENST00000644810.1:c.894A>T	ENSP00000495895.1:p.Thr298=
ENST00000644831.1:n.1349A>T
ENST00000644933.1:c.*39A>T	ENSP00000496133.1:n.*39A>T
ENST00000645285.1:c.*39A>T	ENSP00000495058.1:n.*39A>T
ENST00000645331.1:n.2378A>T
ENST00000645620.1:c.444A>T	ENSP00000493657.1:p.Thr148=
ENST00000646691.1:n.948A>T
ENST00000646777.1:n.1506A>T
ENST00000647016.1:n.1653A>T
ENST00000647152.1:c.444A>T	ENSP00000495893.1:p.Thr148=
ENST00000647209.1:c.*1042A>T	ENSP00000495558.1:n.*1042A>T
ENST00000647346.1:n.2193A>T
ENST00000299427.10:c.1173A>T	ENSP00000299427.6:p.Thr391=
ENST00000524924.1:n.128A>T
ENST00000532191.1:n.226A>T
ENST00000533371.5:c.444A>T	ENSP00000437066.1:p.Thr148=
ENST00000611494.4:c.1173A>T	ENSP00000484546.1:p.Thr391=
NM_000391.3:c.1173A>T	NP_000382.3:p.Thr391=
NM_000391.4:c.1173A>T MANE Select	NP_000382.3:p.Thr391=