Canonical Allele Identifier: CA2612256564

Gene: TPP1

Linked Data

• gnomAD v4: 11-6618003-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6618003C>T , CM000673.2:g.6618003C>T	GRCh38
NC_000011.9:g.6639234C>T , CM000673.1:g.6639234C>T	GRCh37
NC_000011.8:g.6595810C>T	NCBI36
NG_008653.1:g.6459G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.116-227G>A	ENSP00000507321.1:n.116-227G>A
ENST00000299427.12:c.230-227G>A MANE Select	ENSP00000299427.6:n.230-227G>A
ENST00000428886.7:n.318-227G>A
ENST00000436873.7:c.34-227G>A
ENST00000524788.2:n.1015G>A
ENST00000524903.2:n.1131G>A
ENST00000528571.6:c.90-227G>A	ENSP00000434647.1:n.90-227G>A
ENST00000530040.2:n.259-227G>A
ENST00000533371.6:c.-500-227G>A	ENSP00000437066.1:n.-500-227G>A
ENST00000534644.6:n.231-227G>A
ENST00000642892.1:c.-447-227G>A	ENSP00000494165.1:n.-447-227G>A
ENST00000643439.1:c.90-227G>A	ENSP00000495849.1:n.90-227G>A
ENST00000643479.1:n.259-227G>A
ENST00000643516.1:c.117-227G>A
ENST00000644151.1:n.1295G>A
ENST00000644218.1:c.230-227G>A	ENSP00000493574.1:n.230-227G>A
ENST00000644683.1:c.230-227G>A	ENSP00000494085.1:n.230-227G>A
ENST00000644810.1:c.229+773G>A	ENSP00000495895.1:n.229+773G>A
ENST00000644831.1:n.259-227G>A
ENST00000644933.1:c.-500-227G>A	ENSP00000496133.1:n.-500-227G>A
ENST00000645020.1:n.1031G>A
ENST00000645285.1:c.-500-227G>A	ENSP00000495058.1:n.-500-227G>A
ENST00000645331.1:n.252-227G>A
ENST00000645620.1:c.-442-227G>A	ENSP00000493657.1:n.-442-227G>A
ENST00000646777.1:n.259-227G>A
ENST00000647016.1:n.336G>A
ENST00000647152.1:c.-500-227G>A	ENSP00000495893.1:n.-500-227G>A
ENST00000647209.1:c.*99-227G>A	ENSP00000495558.1:n.*99-227G>A
ENST00000647346.1:n.1023G>A
ENST00000299427.10:c.230-227G>A	ENSP00000299427.6:n.230-227G>A
ENST00000428886.6:n.252-227G>A
ENST00000436873.6:c.230-227G>A	ENSP00000398136.2:n.230-227G>A
ENST00000528571.5:c.90-227G>A	ENSP00000434647.1:n.90-227G>A
ENST00000528917.1:n.531-227G>A
ENST00000530040.1:n.342-227G>A
ENST00000533371.5:c.-500-227G>A	ENSP00000437066.1:n.-500-227G>A
ENST00000534644.5:n.215-227G>A
ENST00000611494.4:c.230-227G>A	ENSP00000484546.1:n.230-227G>A
NM_000391.3:c.230-227G>A	NP_000382.3:n.230-227G>A
NM_000391.4:c.230-227G>A MANE Select	NP_000382.3:n.230-227G>A