Canonical Allele Identifier: CA2697548407

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2707025
• ClinVar RCV Id: RCV003552273

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616967T>A , CM000673.2:g.6616967T>A	GRCh38
NC_000011.9:g.6638198T>A , CM000673.1:g.6638198T>A	GRCh37
NC_000011.8:g.6594774T>A	NCBI36
NG_008653.1:g.7495A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.573+8A>T	ENSP00000507321.1:n.573+8A>T
ENST00000299427.12:c.687+8A>T MANE Select	ENSP00000299427.6:n.687+8A>T
ENST00000436873.7:c.312+334A>T
ENST00000524788.2:n.1846+8A>T
ENST00000524903.2:n.1962+8A>T
ENST00000528807.2:n.343+8A>T
ENST00000530040.2:n.479+392A>T
ENST00000533371.6:c.-43+8A>T	ENSP00000437066.1:n.-43+8A>T
ENST00000642892.1:c.-43+8A>T	ENSP00000494165.1:n.-43+8A>T
ENST00000643439.1:c.*427+8A>T	ENSP00000495849.1:n.*427+8A>T
ENST00000643479.1:n.716+8A>T
ENST00000643516.1:c.395+334A>T
ENST00000644151.1:n.2126+8A>T
ENST00000644218.1:c.687+8A>T	ENSP00000493574.1:n.687+8A>T
ENST00000644683.1:c.*140+8A>T	ENSP00000494085.1:n.*140+8A>T
ENST00000644810.1:c.408+8A>T	ENSP00000495895.1:n.408+8A>T
ENST00000644831.1:n.863+8A>T
ENST00000644933.1:c.-43+8A>T	ENSP00000496133.1:n.-43+8A>T
ENST00000645020.1:n.1870A>T
ENST00000645285.1:c.-43+8A>T	ENSP00000495058.1:n.-43+8A>T
ENST00000645331.1:n.1053+8A>T
ENST00000645620.1:c.-43+8A>T	ENSP00000493657.1:n.-43+8A>T
ENST00000646777.1:n.863+8A>T
ENST00000647016.1:n.1167+8A>T
ENST00000647152.1:c.-43+8A>T	ENSP00000495893.1:n.-43+8A>T
ENST00000647209.1:c.*556+8A>T	ENSP00000495558.1:n.*556+8A>T
ENST00000647346.1:n.1707+8A>T
ENST00000299427.10:c.687+8A>T	ENSP00000299427.6:n.687+8A>T
ENST00000436873.6:c.450+392A>T	ENSP00000398136.2:n.450+392A>T
ENST00000524788.1:n.387+8A>T
ENST00000528807.1:n.237+8A>T
ENST00000533371.5:c.-43+8A>T	ENSP00000437066.1:n.-43+8A>T
ENST00000611494.4:c.687+8A>T	ENSP00000484546.1:n.687+8A>T
NM_000391.3:c.687+8A>T	NP_000382.3:n.687+8A>T
NM_000391.4:c.687+8A>T MANE Select	NP_000382.3:n.687+8A>T