Canonical Allele Identifier: CA2841969360

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616785dup , CM000673.2:g.6616785dup	GRCh38
NC_000011.9:g.6638016dup , CM000673.1:g.6638016dup	GRCh37
NC_000011.8:g.6594592dup	NCBI36
NG_008653.1:g.7678dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.649dup	ENSP00000507321.1:p.Ala217GlyfsTer18
ENST00000299427.12:c.763dup MANE Select	ENSP00000299427.6:p.Ala255GlyfsTer18
ENST00000436873.7:c.312+517dup
ENST00000524788.2:n.1922dup
ENST00000524903.2:n.2038dup
ENST00000528807.2:n.419dup
ENST00000530040.2:n.480-281dup
ENST00000533371.6:c.34dup	ENSP00000437066.1:p.Ala12GlyfsTer18
ENST00000642892.1:c.34dup	ENSP00000494165.1:p.Ala12GlyfsTer18
ENST00000643439.1:c.*503dup	ENSP00000495849.1:n.*503dup
ENST00000643479.1:n.792dup
ENST00000643516.1:c.396-281dup
ENST00000644151.1:n.2202dup
ENST00000644218.1:c.763dup	ENSP00000493574.1:p.Ala255GlyfsTer18
ENST00000644683.1:c.*216dup	ENSP00000494085.1:n.*216dup
ENST00000644810.1:c.484dup	ENSP00000495895.1:p.Ala162GlyfsTer18
ENST00000644831.1:n.939dup
ENST00000644933.1:c.34dup	ENSP00000496133.1:p.Ala12GlyfsTer18
ENST00000645020.1:n.2053dup
ENST00000645285.1:c.34dup	ENSP00000495058.1:p.Ala12GlyfsTer18
ENST00000645331.1:n.1129dup
ENST00000645620.1:c.34dup	ENSP00000493657.1:p.Ala12GlyfsTer18
ENST00000646777.1:n.939dup
ENST00000647016.1:n.1243dup
ENST00000647152.1:c.34dup	ENSP00000495893.1:p.Ala12GlyfsTer18
ENST00000647209.1:c.*632dup	ENSP00000495558.1:n.*632dup
ENST00000647346.1:n.1783dup
ENST00000299427.10:c.763dup	ENSP00000299427.6:p.Ala255GlyfsTer18
ENST00000436873.6:c.451-281dup	ENSP00000398136.2:n.451-281dup
ENST00000524788.1:n.463dup
ENST00000528807.1:n.313dup
ENST00000533371.5:c.34dup	ENSP00000437066.1:p.Ala12GlyfsTer18
ENST00000611494.4:c.763dup	ENSP00000484546.1:p.Ala255GlyfsTer18
NM_000391.3:c.763dup	NP_000382.3:p.Ala255GlyfsTer18
NM_000391.4:c.763dup MANE Select	NP_000382.3:p.Ala255GlyfsTer18