Canonical Allele Identifier: CA2580084000

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2088834
• ClinVar RCV Id: RCV003011838

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615159G>T , CM000673.2:g.6615159G>T	GRCh38
NC_000011.9:g.6636390G>T , CM000673.1:g.6636390G>T	GRCh37
NC_000011.8:g.6592966G>T	NCBI36
NG_008653.1:g.9303C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1311+12C>A	ENSP00000507321.1:n.1311+12C>A
ENST00000299427.12:c.1425+12C>A MANE Select	ENSP00000299427.6:n.1425+12C>A
ENST00000524611.2:n.285+12C>A
ENST00000524924.2:n.545+12C>A
ENST00000533371.6:c.696+12C>A	ENSP00000437066.1:n.696+12C>A
ENST00000642892.1:c.696+12C>A	ENSP00000494165.1:n.696+12C>A
ENST00000643342.1:c.498+12C>A
ENST00000643439.1:c.*1165+12C>A	ENSP00000495849.1:n.*1165+12C>A
ENST00000643479.1:n.1611+12C>A
ENST00000643516.1:c.934+12C>A
ENST00000644218.1:c.1236+12C>A	ENSP00000493574.1:n.1236+12C>A
ENST00000644683.1:c.*878+12C>A	ENSP00000494085.1:n.*878+12C>A
ENST00000644810.1:c.1146+12C>A	ENSP00000495895.1:n.1146+12C>A
ENST00000644831.1:n.1601+12C>A
ENST00000644933.1:c.*291+12C>A	ENSP00000496133.1:n.*291+12C>A
ENST00000645285.1:c.*291+12C>A	ENSP00000495058.1:n.*291+12C>A
ENST00000645331.1:n.2630+12C>A
ENST00000645620.1:c.696+12C>A	ENSP00000493657.1:n.696+12C>A
ENST00000646691.1:n.1312+12C>A
ENST00000646777.1:n.1758+12C>A
ENST00000647016.1:n.1905+12C>A
ENST00000647152.1:c.696+12C>A	ENSP00000495893.1:n.696+12C>A
ENST00000647209.1:c.*1294+12C>A	ENSP00000495558.1:n.*1294+12C>A
ENST00000647346.1:n.2445+12C>A
ENST00000299427.10:c.1425+12C>A	ENSP00000299427.6:n.1425+12C>A
ENST00000524611.1:n.303+12C>A
ENST00000533371.5:c.696+12C>A	ENSP00000437066.1:n.696+12C>A
ENST00000611494.4:c.1425+12C>A	ENSP00000484546.1:n.1425+12C>A
NM_000391.3:c.1425+12C>A	NP_000382.3:n.1425+12C>A
NM_000391.4:c.1425+12C>A MANE Select	NP_000382.3:n.1425+12C>A