Canonical Allele Identifier: CA379475285

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638090A>T (hg19) ; chr11:g.6616859A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616859A>T , CM000673.2:g.6616859A>T	GRCh38
NC_000011.9:g.6638090A>T , CM000673.1:g.6638090A>T	GRCh37
NC_000011.8:g.6594666A>T	NCBI36
NG_008653.1:g.7603T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.574T>A	ENSP00000507321.1:p.Phe192Ile
ENST00000299427.12:c.688T>A MANE Select	ENSP00000299427.6:p.Phe230Ile
ENST00000436873.7:c.312+442T>A
ENST00000524788.2:n.1847T>A
ENST00000524903.2:n.1963T>A
ENST00000528807.2:n.344T>A
ENST00000530040.2:n.480-356T>A
ENST00000533371.6:c.-42T>A	ENSP00000437066.1:n.-42T>A
ENST00000642892.1:c.-42T>A	ENSP00000494165.1:n.-42T>A
ENST00000643439.1:c.*428T>A	ENSP00000495849.1:n.*428T>A
ENST00000643479.1:n.717T>A
ENST00000643516.1:c.396-356T>A
ENST00000644151.1:n.2127T>A
ENST00000644218.1:c.688T>A	ENSP00000493574.1:p.Phe230Ile
ENST00000644683.1:c.*141T>A	ENSP00000494085.1:n.*141T>A
ENST00000644810.1:c.409T>A	ENSP00000495895.1:p.Phe137Ile
ENST00000644831.1:n.864T>A
ENST00000644933.1:c.-42T>A	ENSP00000496133.1:n.-42T>A
ENST00000645020.1:n.1978T>A
ENST00000645285.1:c.-42T>A	ENSP00000495058.1:n.-42T>A
ENST00000645331.1:n.1054T>A
ENST00000645620.1:c.-42T>A	ENSP00000493657.1:n.-42T>A
ENST00000646777.1:n.864T>A
ENST00000647016.1:n.1168T>A
ENST00000647152.1:c.-42T>A	ENSP00000495893.1:n.-42T>A
ENST00000647209.1:c.*557T>A	ENSP00000495558.1:n.*557T>A
ENST00000647346.1:n.1708T>A
ENST00000299427.10:c.688T>A	ENSP00000299427.6:p.Phe230Ile
ENST00000436873.6:c.451-356T>A	ENSP00000398136.2:n.451-356T>A
ENST00000524788.1:n.388T>A
ENST00000528807.1:n.238T>A
ENST00000533371.5:c.-42T>A	ENSP00000437066.1:n.-42T>A
ENST00000611494.4:c.688T>A	ENSP00000484546.1:p.Phe230Ile
NM_000391.3:c.688T>A	NP_000382.3:p.Phe230Ile
NM_000391.4:c.688T>A MANE Select	NP_000382.3:p.Phe230Ile