Canonical Allele Identifier: CA379475251

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638075A>T (hg19) ; chr11:g.6616844A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616844A>T , CM000673.2:g.6616844A>T	GRCh38
NC_000011.9:g.6638075A>T , CM000673.1:g.6638075A>T	GRCh37
NC_000011.8:g.6594651A>T	NCBI36
NG_008653.1:g.7618T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.589T>A	ENSP00000507321.1:p.Phe197Ile
ENST00000299427.12:c.703T>A MANE Select	ENSP00000299427.6:p.Phe235Ile
ENST00000436873.7:c.312+457T>A
ENST00000524788.2:n.1862T>A
ENST00000524903.2:n.1978T>A
ENST00000528807.2:n.359T>A
ENST00000530040.2:n.480-341T>A
ENST00000533371.6:c.-27T>A	ENSP00000437066.1:n.-27T>A
ENST00000642892.1:c.-27T>A	ENSP00000494165.1:n.-27T>A
ENST00000643439.1:c.*443T>A	ENSP00000495849.1:n.*443T>A
ENST00000643479.1:n.732T>A
ENST00000643516.1:c.396-341T>A
ENST00000644151.1:n.2142T>A
ENST00000644218.1:c.703T>A	ENSP00000493574.1:p.Phe235Ile
ENST00000644683.1:c.*156T>A	ENSP00000494085.1:n.*156T>A
ENST00000644810.1:c.424T>A	ENSP00000495895.1:p.Phe142Ile
ENST00000644831.1:n.879T>A
ENST00000644933.1:c.-27T>A	ENSP00000496133.1:n.-27T>A
ENST00000645020.1:n.1993T>A
ENST00000645285.1:c.-27T>A	ENSP00000495058.1:n.-27T>A
ENST00000645331.1:n.1069T>A
ENST00000645620.1:c.-27T>A	ENSP00000493657.1:n.-27T>A
ENST00000646777.1:n.879T>A
ENST00000647016.1:n.1183T>A
ENST00000647152.1:c.-27T>A	ENSP00000495893.1:n.-27T>A
ENST00000647209.1:c.*572T>A	ENSP00000495558.1:n.*572T>A
ENST00000647346.1:n.1723T>A
ENST00000299427.10:c.703T>A	ENSP00000299427.6:p.Phe235Ile
ENST00000436873.6:c.451-341T>A	ENSP00000398136.2:n.451-341T>A
ENST00000524788.1:n.403T>A
ENST00000528807.1:n.253T>A
ENST00000533371.5:c.-27T>A	ENSP00000437066.1:n.-27T>A
ENST00000611494.4:c.703T>A	ENSP00000484546.1:p.Phe235Ile
NM_000391.3:c.703T>A	NP_000382.3:p.Phe235Ile
NM_000391.4:c.703T>A MANE Select	NP_000382.3:p.Phe235Ile