Canonical Allele Identifier: CA379472722

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636503A>T (hg19) ; chr11:g.6615272A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615272A>T , CM000673.2:g.6615272A>T	GRCh38
NC_000011.9:g.6636503A>T , CM000673.1:g.6636503A>T	GRCh37
NC_000011.8:g.6593079A>T	NCBI36
NG_008653.1:g.9190T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1210T>A	ENSP00000507321.1:p.Phe404Ile
ENST00000299427.12:c.1324T>A MANE Select	ENSP00000299427.6:p.Phe442Ile
ENST00000524611.2:n.184T>A
ENST00000524924.2:n.444T>A
ENST00000533371.6:c.595T>A	ENSP00000437066.1:p.Phe199Ile
ENST00000642892.1:c.595T>A	ENSP00000494165.1:p.Phe199Ile
ENST00000643342.1:c.397T>A
ENST00000643439.1:c.*1064T>A	ENSP00000495849.1:n.*1064T>A
ENST00000643479.1:n.1510T>A
ENST00000643516.1:c.833T>A
ENST00000644218.1:c.1135T>A	ENSP00000493574.1:p.Phe379Ile
ENST00000644683.1:c.*777T>A	ENSP00000494085.1:n.*777T>A
ENST00000644810.1:c.1045T>A	ENSP00000495895.1:p.Phe349Ile
ENST00000644831.1:n.1500T>A
ENST00000644933.1:c.*190T>A	ENSP00000496133.1:n.*190T>A
ENST00000645285.1:c.*190T>A	ENSP00000495058.1:n.*190T>A
ENST00000645331.1:n.2529T>A
ENST00000645620.1:c.595T>A	ENSP00000493657.1:p.Phe199Ile
ENST00000646691.1:n.1211T>A
ENST00000646777.1:n.1657T>A
ENST00000647016.1:n.1804T>A
ENST00000647152.1:c.595T>A	ENSP00000495893.1:p.Phe199Ile
ENST00000647209.1:c.*1193T>A	ENSP00000495558.1:n.*1193T>A
ENST00000647346.1:n.2344T>A
ENST00000299427.10:c.1324T>A	ENSP00000299427.6:p.Phe442Ile
ENST00000524611.1:n.202T>A
ENST00000524924.1:n.279T>A
ENST00000532191.1:n.377T>A
ENST00000533371.5:c.595T>A	ENSP00000437066.1:p.Phe199Ile
ENST00000611494.4:c.1324T>A	ENSP00000484546.1:p.Phe442Ile
NM_000391.3:c.1324T>A	NP_000382.3:p.Phe442Ile
NM_000391.4:c.1324T>A MANE Select	NP_000382.3:p.Phe442Ile