Canonical Allele Identifier: CA2612256552

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617991-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617991G>A , CM000673.2:g.6617991G>A	GRCh38
NC_000011.9:g.6639222G>A , CM000673.1:g.6639222G>A	GRCh37
NC_000011.8:g.6595798G>A	NCBI36
NG_008653.1:g.6471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.116-215C>T	ENSP00000507321.1:n.116-215C>T
ENST00000299427.12:c.230-215C>T MANE Select	ENSP00000299427.6:n.230-215C>T
ENST00000428886.7:n.318-215C>T
ENST00000436873.7:c.34-215C>T
ENST00000524788.2:n.1027C>T
ENST00000524903.2:n.1143C>T
ENST00000528571.6:c.90-215C>T	ENSP00000434647.1:n.90-215C>T
ENST00000530040.2:n.259-215C>T
ENST00000533371.6:c.-500-215C>T	ENSP00000437066.1:n.-500-215C>T
ENST00000534644.6:n.231-215C>T
ENST00000642892.1:c.-447-215C>T	ENSP00000494165.1:n.-447-215C>T
ENST00000643439.1:c.90-215C>T	ENSP00000495849.1:n.90-215C>T
ENST00000643479.1:n.259-215C>T
ENST00000643516.1:c.117-215C>T
ENST00000644151.1:n.1307C>T
ENST00000644218.1:c.230-215C>T	ENSP00000493574.1:n.230-215C>T
ENST00000644683.1:c.230-215C>T	ENSP00000494085.1:n.230-215C>T
ENST00000644810.1:c.229+785C>T	ENSP00000495895.1:n.229+785C>T
ENST00000644831.1:n.259-215C>T
ENST00000644933.1:c.-500-215C>T	ENSP00000496133.1:n.-500-215C>T
ENST00000645020.1:n.1043C>T
ENST00000645285.1:c.-500-215C>T	ENSP00000495058.1:n.-500-215C>T
ENST00000645331.1:n.252-215C>T
ENST00000645620.1:c.-442-215C>T	ENSP00000493657.1:n.-442-215C>T
ENST00000646777.1:n.259-215C>T
ENST00000647016.1:n.348C>T
ENST00000647152.1:c.-500-215C>T	ENSP00000495893.1:n.-500-215C>T
ENST00000647209.1:c.*99-215C>T	ENSP00000495558.1:n.*99-215C>T
ENST00000647346.1:n.1035C>T
ENST00000299427.10:c.230-215C>T	ENSP00000299427.6:n.230-215C>T
ENST00000428886.6:n.252-215C>T
ENST00000436873.6:c.230-215C>T	ENSP00000398136.2:n.230-215C>T
ENST00000528571.5:c.90-215C>T	ENSP00000434647.1:n.90-215C>T
ENST00000528917.1:n.531-215C>T
ENST00000530040.1:n.342-215C>T
ENST00000533371.5:c.-500-215C>T	ENSP00000437066.1:n.-500-215C>T
ENST00000534644.5:n.215-215C>T
ENST00000611494.4:c.230-215C>T	ENSP00000484546.1:n.230-215C>T
NM_000391.3:c.230-215C>T	NP_000382.3:n.230-215C>T
NM_000391.4:c.230-215C>T MANE Select	NP_000382.3:n.230-215C>T