Canonical Allele Identifier: CA319178

Gene: TPP1

Linked Data

• ClinVar Variation Id: 207576
• ClinVar RCV Id: RCV000189767 ; RCV001070245 ; RCV001275123
• dbSNP Id: rs764922748
• ExAC: 11:6638369 C / T
• gnomAD v2: 11-6638369-C-T
• gnomAD v4: 11-6617138-C-T
• COSMIC: COSM3726910
• MyVariant Identifiers: chr11:g.6638369C>T (hg19) ; chr11:g.6617138C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617138C>T , CM000673.2:g.6617138C>T	GRCh38
NC_000011.9:g.6638369C>T , CM000673.1:g.6638369C>T	GRCh37
NC_000011.8:g.6594945C>T	NCBI36
NG_008653.1:g.7324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.410G>A	ENSP00000507321.1:p.Arg137His
ENST00000299427.12:c.524G>A MANE Select	ENSP00000299427.6:p.Arg175His
ENST00000428886.7:n.759G>A
ENST00000436873.7:c.312+163G>A
ENST00000524788.2:n.1683G>A
ENST00000524903.2:n.1799G>A
ENST00000528807.2:n.180G>A
ENST00000530040.2:n.479+221G>A
ENST00000533371.6:c.-206G>A	ENSP00000437066.1:n.-206G>A
ENST00000534644.6:n.472G>A
ENST00000642892.1:c.-206G>A	ENSP00000494165.1:n.-206G>A
ENST00000643439.1:c.*264G>A	ENSP00000495849.1:n.*264G>A
ENST00000643479.1:n.553G>A
ENST00000643516.1:c.395+163G>A
ENST00000644151.1:n.1963G>A
ENST00000644218.1:c.524G>A	ENSP00000493574.1:p.Arg175His
ENST00000644683.1:c.466G>A	ENSP00000494085.1:p.Val156Ile
ENST00000644810.1:c.245G>A	ENSP00000495895.1:p.Arg82His
ENST00000644831.1:n.700G>A
ENST00000644933.1:c.-206G>A	ENSP00000496133.1:n.-206G>A
ENST00000645020.1:n.1699G>A
ENST00000645285.1:c.-206G>A	ENSP00000495058.1:n.-206G>A
ENST00000645331.1:n.890G>A
ENST00000645620.1:c.-206G>A	ENSP00000493657.1:n.-206G>A
ENST00000646777.1:n.700G>A
ENST00000647016.1:n.1004G>A
ENST00000647152.1:c.-206G>A	ENSP00000495893.1:n.-206G>A
ENST00000647209.1:c.*393G>A	ENSP00000495558.1:n.*393G>A
ENST00000647346.1:n.1544G>A
ENST00000299427.10:c.524G>A	ENSP00000299427.6:p.Arg175His
ENST00000428886.6:n.693G>A
ENST00000436873.6:c.450+221G>A	ENSP00000398136.2:n.450+221G>A
ENST00000524788.1:n.224G>A
ENST00000528571.5:c.*264G>A	ENSP00000434647.1:n.*264G>A
ENST00000528807.1:n.74G>A
ENST00000533371.5:c.-206G>A	ENSP00000437066.1:n.-206G>A
ENST00000534644.5:n.509G>A
ENST00000611494.4:c.524G>A	ENSP00000484546.1:p.Arg175His
NM_000391.3:c.524G>A	NP_000382.3:p.Arg175His
NM_000391.4:c.524G>A MANE Select	NP_000382.3:p.Arg175His