Canonical Allele Identifier: CA2574741341

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616906C>A , CM000673.2:g.6616906C>A	GRCh38
NC_000011.9:g.6638137C>A , CM000673.1:g.6638137C>A	GRCh37
NC_000011.8:g.6594713C>A	NCBI36
NG_008653.1:g.7556G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.574-47G>T	ENSP00000507321.1:n.574-47G>T
ENST00000299427.12:c.688-47G>T MANE Select	ENSP00000299427.6:n.688-47G>T
ENST00000436873.7:c.312+395G>T
ENST00000524788.2:n.1847-47G>T
ENST00000524903.2:n.1963-47G>T
ENST00000528807.2:n.344-47G>T
ENST00000530040.2:n.480-403G>T
ENST00000533371.6:c.-42-47G>T	ENSP00000437066.1:n.-42-47G>T
ENST00000642892.1:c.-42-47G>T	ENSP00000494165.1:n.-42-47G>T
ENST00000643439.1:c.*428-47G>T	ENSP00000495849.1:n.*428-47G>T
ENST00000643479.1:n.717-47G>T
ENST00000643516.1:c.395+395G>T
ENST00000644151.1:n.2127-47G>T
ENST00000644218.1:c.688-47G>T	ENSP00000493574.1:n.688-47G>T
ENST00000644683.1:c.*141-47G>T	ENSP00000494085.1:n.*141-47G>T
ENST00000644810.1:c.409-47G>T	ENSP00000495895.1:n.409-47G>T
ENST00000644831.1:n.864-47G>T
ENST00000644933.1:c.-42-47G>T	ENSP00000496133.1:n.-42-47G>T
ENST00000645020.1:n.1931G>T
ENST00000645285.1:c.-42-47G>T	ENSP00000495058.1:n.-42-47G>T
ENST00000645331.1:n.1054-47G>T
ENST00000645620.1:c.-42-47G>T	ENSP00000493657.1:n.-42-47G>T
ENST00000646777.1:n.864-47G>T
ENST00000647016.1:n.1168-47G>T
ENST00000647152.1:c.-42-47G>T	ENSP00000495893.1:n.-42-47G>T
ENST00000647209.1:c.*557-47G>T	ENSP00000495558.1:n.*557-47G>T
ENST00000647346.1:n.1708-47G>T
ENST00000299427.10:c.688-47G>T	ENSP00000299427.6:n.688-47G>T
ENST00000436873.6:c.451-403G>T	ENSP00000398136.2:n.451-403G>T
ENST00000524788.1:n.388-47G>T
ENST00000528807.1:n.238-47G>T
ENST00000533371.5:c.-42-47G>T	ENSP00000437066.1:n.-42-47G>T
ENST00000611494.4:c.688-47G>T	ENSP00000484546.1:n.688-47G>T
NM_000391.3:c.688-47G>T	NP_000382.3:n.688-47G>T
NM_000391.4:c.688-47G>T MANE Select	NP_000382.3:n.688-47G>T