Canonical Allele Identifier: CA379475472

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2026862
• ClinVar RCV Id: RCV002871575
• MyVariant Identifiers: chr11:g.6638288G>T (hg19) ; chr11:g.6617057G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617057G>T , CM000673.2:g.6617057G>T	GRCh38
NC_000011.9:g.6638288G>T , CM000673.1:g.6638288G>T	GRCh37
NC_000011.8:g.6594864G>T	NCBI36
NG_008653.1:g.7405C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.491C>A	ENSP00000507321.1:p.Pro164His
ENST00000299427.12:c.605C>A MANE Select	ENSP00000299427.6:p.Pro202His
ENST00000436873.7:c.312+244C>A
ENST00000524788.2:n.1764C>A
ENST00000524903.2:n.1880C>A
ENST00000528807.2:n.261C>A
ENST00000530040.2:n.479+302C>A
ENST00000533371.6:c.-125C>A	ENSP00000437066.1:n.-125C>A
ENST00000534644.6:n.553C>A
ENST00000642892.1:c.-125C>A	ENSP00000494165.1:n.-125C>A
ENST00000643439.1:c.*345C>A	ENSP00000495849.1:n.*345C>A
ENST00000643479.1:n.634C>A
ENST00000643516.1:c.395+244C>A
ENST00000644151.1:n.2044C>A
ENST00000644218.1:c.605C>A	ENSP00000493574.1:p.Pro202His
ENST00000644683.1:c.*58C>A	ENSP00000494085.1:n.*58C>A
ENST00000644810.1:c.326C>A	ENSP00000495895.1:p.Pro109His
ENST00000644831.1:n.781C>A
ENST00000644933.1:c.-125C>A	ENSP00000496133.1:n.-125C>A
ENST00000645020.1:n.1780C>A
ENST00000645285.1:c.-125C>A	ENSP00000495058.1:n.-125C>A
ENST00000645331.1:n.971C>A
ENST00000645620.1:c.-125C>A	ENSP00000493657.1:n.-125C>A
ENST00000646777.1:n.781C>A
ENST00000647016.1:n.1085C>A
ENST00000647152.1:c.-125C>A	ENSP00000495893.1:n.-125C>A
ENST00000647209.1:c.*474C>A	ENSP00000495558.1:n.*474C>A
ENST00000647346.1:n.1625C>A
ENST00000299427.10:c.605C>A	ENSP00000299427.6:p.Pro202His
ENST00000428886.6:n.774C>A
ENST00000436873.6:c.450+302C>A	ENSP00000398136.2:n.450+302C>A
ENST00000524788.1:n.305C>A
ENST00000528571.5:c.*345C>A	ENSP00000434647.1:n.*345C>A
ENST00000528807.1:n.155C>A
ENST00000533371.5:c.-125C>A	ENSP00000437066.1:n.-125C>A
ENST00000534644.5:n.590C>A
ENST00000611494.4:c.605C>A	ENSP00000484546.1:p.Pro202His
NM_000391.3:c.605C>A	NP_000382.3:p.Pro202His
NM_000391.4:c.605C>A MANE Select	NP_000382.3:p.Pro202His