Canonical Allele Identifier: CA912972921

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638617dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617386dup , CM000673.2:g.6617386dup	GRCh38
NC_000011.9:g.6638617dup , CM000673.1:g.6638617dup	GRCh37
NC_000011.8:g.6595193dup	NCBI36
NG_008653.1:g.7076dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.309dup	ENSP00000507321.1:p.Val104CysfsTer?
ENST00000299427.12:c.423dup MANE Select	ENSP00000299427.6:p.Val142CysfsTer?
ENST00000428886.7:n.511dup
ENST00000436873.7:c.227dup
ENST00000524788.2:n.1435dup
ENST00000524903.2:n.1551dup
ENST00000528571.6:c.*163dup	ENSP00000434647.1:n.*163dup
ENST00000528807.2:n.79dup
ENST00000530040.2:n.452dup
ENST00000533371.6:c.-307dup	ENSP00000437066.1:n.-307dup
ENST00000534644.6:n.424dup
ENST00000642892.1:c.-254dup	ENSP00000494165.1:n.-254dup
ENST00000643439.1:c.*163dup	ENSP00000495849.1:n.*163dup
ENST00000643479.1:n.452dup
ENST00000643516.1:c.310dup
ENST00000644151.1:n.1715dup
ENST00000644218.1:c.423dup	ENSP00000493574.1:p.Val142CysfsTer?
ENST00000644683.1:c.423dup	ENSP00000494085.1:p.Val142CysfsTer?
ENST00000644810.1:c.230-233dup	ENSP00000495895.1:n.230-233dup
ENST00000644831.1:n.452dup
ENST00000644933.1:c.-307dup	ENSP00000496133.1:n.-307dup
ENST00000645020.1:n.1451dup
ENST00000645285.1:c.-307dup	ENSP00000495058.1:n.-307dup
ENST00000645331.1:n.642dup
ENST00000645620.1:c.-249dup	ENSP00000493657.1:n.-249dup
ENST00000646777.1:n.452dup
ENST00000647016.1:n.756dup
ENST00000647152.1:c.-307dup	ENSP00000495893.1:n.-307dup
ENST00000647209.1:c.*292dup	ENSP00000495558.1:n.*292dup
ENST00000647346.1:n.1443dup
ENST00000299427.10:c.423dup	ENSP00000299427.6:p.Val142CysfsTer?
ENST00000428886.6:n.445dup
ENST00000436873.6:c.423dup	ENSP00000398136.2:p.Val142CysfsTer?
ENST00000528571.5:c.*163dup	ENSP00000434647.1:n.*163dup
ENST00000530040.1:n.535dup
ENST00000533371.5:c.-307dup	ENSP00000437066.1:n.-307dup
ENST00000534644.5:n.408dup
ENST00000611494.4:c.423dup	ENSP00000484546.1:p.Val142CysfsTer?
NM_000391.3:c.423dup	NP_000382.3:p.Val142CysfsTer?
NM_000391.4:c.423dup MANE Select	NP_000382.3:p.Val142CysfsTer?