Canonical Allele Identifier: CA2740093623

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2999550
• ClinVar RCV Id: RCV003854661

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617444C>T , CM000673.2:g.6617444C>T	GRCh38
NC_000011.9:g.6638675C>T , CM000673.1:g.6638675C>T	GRCh37
NC_000011.8:g.6595251C>T	NCBI36
NG_008653.1:g.7018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.267-16G>A	ENSP00000507321.1:n.267-16G>A
ENST00000299427.12:c.381-16G>A MANE Select	ENSP00000299427.6:n.381-16G>A
ENST00000428886.7:n.469-16G>A
ENST00000436873.7:c.185-16G>A
ENST00000524788.2:n.1393-16G>A
ENST00000524903.2:n.1509-16G>A
ENST00000528571.6:c.*121-16G>A	ENSP00000434647.1:n.*121-16G>A
ENST00000528807.2:n.21G>A
ENST00000530040.2:n.410-16G>A
ENST00000533371.6:c.-349-16G>A	ENSP00000437066.1:n.-349-16G>A
ENST00000534644.6:n.382-16G>A
ENST00000642892.1:c.-296-16G>A	ENSP00000494165.1:n.-296-16G>A
ENST00000643439.1:c.*121-16G>A	ENSP00000495849.1:n.*121-16G>A
ENST00000643479.1:n.410-16G>A
ENST00000643516.1:c.268-16G>A
ENST00000644151.1:n.1673-16G>A
ENST00000644218.1:c.381-16G>A	ENSP00000493574.1:n.381-16G>A
ENST00000644683.1:c.381-16G>A	ENSP00000494085.1:n.381-16G>A
ENST00000644810.1:c.230-291G>A	ENSP00000495895.1:n.230-291G>A
ENST00000644831.1:n.410-16G>A
ENST00000644933.1:c.-349-16G>A	ENSP00000496133.1:n.-349-16G>A
ENST00000645020.1:n.1409-16G>A
ENST00000645285.1:c.-349-16G>A	ENSP00000495058.1:n.-349-16G>A
ENST00000645331.1:n.584G>A
ENST00000645620.1:c.-291-16G>A	ENSP00000493657.1:n.-291-16G>A
ENST00000646777.1:n.410-16G>A
ENST00000647016.1:n.714-16G>A
ENST00000647152.1:c.-349-16G>A	ENSP00000495893.1:n.-349-16G>A
ENST00000647209.1:c.*250-16G>A	ENSP00000495558.1:n.*250-16G>A
ENST00000647346.1:n.1401-16G>A
ENST00000299427.10:c.381-16G>A	ENSP00000299427.6:n.381-16G>A
ENST00000428886.6:n.403-16G>A
ENST00000436873.6:c.381-16G>A	ENSP00000398136.2:n.381-16G>A
ENST00000528571.5:c.*121-16G>A	ENSP00000434647.1:n.*121-16G>A
ENST00000530040.1:n.493-16G>A
ENST00000533371.5:c.-349-16G>A	ENSP00000437066.1:n.-349-16G>A
ENST00000534644.5:n.366-16G>A
ENST00000611494.4:c.381-16G>A	ENSP00000484546.1:n.381-16G>A
NM_000391.3:c.381-16G>A	NP_000382.3:n.381-16G>A
NM_000391.4:c.381-16G>A MANE Select	NP_000382.3:n.381-16G>A