Canonical Allele Identifier: CA2580988313

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617270C>G , CM000673.2:g.6617270C>G	GRCh38
NC_000011.9:g.6638501C>G , CM000673.1:g.6638501C>G	GRCh37
NC_000011.8:g.6595077C>G	NCBI36
NG_008653.1:g.7192G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.394+31G>C	ENSP00000507321.1:n.394+31G>C
ENST00000299427.12:c.508+31G>C MANE Select	ENSP00000299427.6:n.508+31G>C
ENST00000428886.7:n.627G>C
ENST00000436873.7:c.312+31G>C
ENST00000524788.2:n.1551G>C
ENST00000524903.2:n.1667G>C
ENST00000528571.6:c.*279G>C	ENSP00000434647.1:n.*279G>C
ENST00000528807.2:n.164+31G>C
ENST00000530040.2:n.479+89G>C
ENST00000533371.6:c.-222+31G>C	ENSP00000437066.1:n.-222+31G>C
ENST00000534644.6:n.456+84G>C
ENST00000642892.1:c.-222+84G>C	ENSP00000494165.1:n.-222+84G>C
ENST00000643439.1:c.*248+31G>C	ENSP00000495849.1:n.*248+31G>C
ENST00000643479.1:n.537+31G>C
ENST00000643516.1:c.395+31G>C
ENST00000644151.1:n.1831G>C
ENST00000644218.1:c.508+31G>C	ENSP00000493574.1:n.508+31G>C
ENST00000644683.1:c.450+89G>C	ENSP00000494085.1:n.450+89G>C
ENST00000644810.1:c.230-117G>C	ENSP00000495895.1:n.230-117G>C
ENST00000644831.1:n.568G>C
ENST00000644933.1:c.-222+31G>C	ENSP00000496133.1:n.-222+31G>C
ENST00000645020.1:n.1567G>C
ENST00000645285.1:c.-222+31G>C	ENSP00000495058.1:n.-222+31G>C
ENST00000645331.1:n.758G>C
ENST00000645620.1:c.-222+89G>C	ENSP00000493657.1:n.-222+89G>C
ENST00000646777.1:n.568G>C
ENST00000647016.1:n.872G>C
ENST00000647152.1:c.-222+31G>C	ENSP00000495893.1:n.-222+31G>C
ENST00000647209.1:c.*377+31G>C	ENSP00000495558.1:n.*377+31G>C
ENST00000647346.1:n.1528+31G>C
ENST00000299427.10:c.508+31G>C	ENSP00000299427.6:n.508+31G>C
ENST00000428886.6:n.561G>C
ENST00000436873.6:c.450+89G>C	ENSP00000398136.2:n.450+89G>C
ENST00000524788.1:n.92G>C
ENST00000528571.5:c.*248+31G>C	ENSP00000434647.1:n.*248+31G>C
ENST00000533371.5:c.-222+31G>C	ENSP00000437066.1:n.-222+31G>C
ENST00000534644.5:n.493+31G>C
ENST00000611494.4:c.508+31G>C	ENSP00000484546.1:n.508+31G>C
NM_000391.3:c.508+31G>C	NP_000382.3:n.508+31G>C
NM_000391.4:c.508+31G>C MANE Select	NP_000382.3:n.508+31G>C