Canonical Allele Identifier: CA379473046

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636750A>T (hg19) ; chr11:g.6615519A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615519A>T , CM000673.2:g.6615519A>T	GRCh38
NC_000011.9:g.6636750A>T , CM000673.1:g.6636750A>T	GRCh37
NC_000011.8:g.6593326A>T	NCBI36
NG_008653.1:g.8943T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1075T>A	ENSP00000507321.1:p.Phe359Ile
ENST00000299427.12:c.1189T>A MANE Select	ENSP00000299427.6:p.Phe397Ile
ENST00000436873.7:c.426T>A
ENST00000524924.2:n.309T>A
ENST00000533371.6:c.460T>A	ENSP00000437066.1:p.Phe154Ile
ENST00000642892.1:c.460T>A	ENSP00000494165.1:p.Phe154Ile
ENST00000643342.1:c.262T>A
ENST00000643439.1:c.*929T>A	ENSP00000495849.1:n.*929T>A
ENST00000643479.1:n.1375T>A
ENST00000643516.1:c.698T>A
ENST00000644218.1:c.1000T>A	ENSP00000493574.1:p.Phe334Ile
ENST00000644683.1:c.*642T>A	ENSP00000494085.1:n.*642T>A
ENST00000644810.1:c.910T>A	ENSP00000495895.1:p.Phe304Ile
ENST00000644831.1:n.1365T>A
ENST00000644933.1:c.*55T>A	ENSP00000496133.1:n.*55T>A
ENST00000645285.1:c.*55T>A	ENSP00000495058.1:n.*55T>A
ENST00000645331.1:n.2394T>A
ENST00000645620.1:c.460T>A	ENSP00000493657.1:p.Phe154Ile
ENST00000646691.1:n.964T>A
ENST00000646777.1:n.1522T>A
ENST00000647016.1:n.1669T>A
ENST00000647152.1:c.460T>A	ENSP00000495893.1:p.Phe154Ile
ENST00000647209.1:c.*1058T>A	ENSP00000495558.1:n.*1058T>A
ENST00000647346.1:n.2209T>A
ENST00000299427.10:c.1189T>A	ENSP00000299427.6:p.Phe397Ile
ENST00000524924.1:n.144T>A
ENST00000532191.1:n.242T>A
ENST00000533371.5:c.460T>A	ENSP00000437066.1:p.Phe154Ile
ENST00000611494.4:c.1189T>A	ENSP00000484546.1:p.Phe397Ile
NM_000391.3:c.1189T>A	NP_000382.3:p.Phe397Ile
NM_000391.4:c.1189T>A MANE Select	NP_000382.3:p.Phe397Ile