Canonical Allele Identifier: CA472923010

Gene: TPP1

Linked Data

• COSMIC: COSM5616549
• MyVariant Identifiers: chr11:g.6638940C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617709C>A , CM000673.2:g.6617709C>A	GRCh38
NC_000011.9:g.6638940C>A , CM000673.1:g.6638940C>A	GRCh37
NC_000011.8:g.6595516C>A	NCBI36
NG_008653.1:g.6753G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.183G>T	ENSP00000507321.1:p.Val61=
ENST00000299427.12:c.297G>T MANE Select	ENSP00000299427.6:p.Val99=
ENST00000428886.7:n.385G>T
ENST00000436873.7:c.101G>T
ENST00000524788.2:n.1309G>T
ENST00000524903.2:n.1425G>T
ENST00000528571.6:c.*37G>T	ENSP00000434647.1:n.*37G>T
ENST00000530040.2:n.326G>T
ENST00000533371.6:c.-433G>T	ENSP00000437066.1:n.-433G>T
ENST00000534644.6:n.298G>T
ENST00000642892.1:c.-380G>T	ENSP00000494165.1:n.-380G>T
ENST00000643439.1:c.*37G>T	ENSP00000495849.1:n.*37G>T
ENST00000643479.1:n.326G>T
ENST00000643516.1:c.184G>T
ENST00000644151.1:n.1589G>T
ENST00000644218.1:c.297G>T	ENSP00000493574.1:p.Val99=
ENST00000644683.1:c.297G>T	ENSP00000494085.1:p.Val99=
ENST00000644810.1:c.230-556G>T	ENSP00000495895.1:n.230-556G>T
ENST00000644831.1:n.326G>T
ENST00000644933.1:c.-433G>T	ENSP00000496133.1:n.-433G>T
ENST00000645020.1:n.1325G>T
ENST00000645285.1:c.-433G>T	ENSP00000495058.1:n.-433G>T
ENST00000645331.1:n.319G>T
ENST00000645620.1:c.-375G>T	ENSP00000493657.1:n.-375G>T
ENST00000646777.1:n.326G>T
ENST00000647016.1:n.630G>T
ENST00000647152.1:c.-433G>T	ENSP00000495893.1:n.-433G>T
ENST00000647209.1:c.*166G>T	ENSP00000495558.1:n.*166G>T
ENST00000647346.1:n.1317G>T
ENST00000299427.10:c.297G>T	ENSP00000299427.6:p.Val99=
ENST00000428886.6:n.319G>T
ENST00000436873.6:c.297G>T	ENSP00000398136.2:p.Val99=
ENST00000528571.5:c.*37G>T	ENSP00000434647.1:n.*37G>T
ENST00000530040.1:n.409G>T
ENST00000533371.5:c.-433G>T	ENSP00000437066.1:n.-433G>T
ENST00000534644.5:n.282G>T
ENST00000611494.4:c.297G>T	ENSP00000484546.1:p.Val99=
NM_000391.3:c.297G>T	NP_000382.3:p.Val99=
NM_000391.4:c.297G>T MANE Select	NP_000382.3:p.Val99=