Canonical Allele Identifier: CA379472895

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636693A>G (hg19) ; chr11:g.6615462A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615462A>G , CM000673.2:g.6615462A>G	GRCh38
NC_000011.9:g.6636693A>G , CM000673.1:g.6636693A>G	GRCh37
NC_000011.8:g.6593269A>G	NCBI36
NG_008653.1:g.9000T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1132T>C	ENSP00000507321.1:p.Phe378Leu
ENST00000299427.12:c.1246T>C MANE Select	ENSP00000299427.6:p.Phe416Leu
ENST00000436873.7:c.483T>C
ENST00000524924.2:n.366T>C
ENST00000533371.6:c.517T>C	ENSP00000437066.1:p.Phe173Leu
ENST00000642892.1:c.517T>C	ENSP00000494165.1:p.Phe173Leu
ENST00000643342.1:c.319T>C
ENST00000643439.1:c.*986T>C	ENSP00000495849.1:n.*986T>C
ENST00000643479.1:n.1432T>C
ENST00000643516.1:c.755T>C
ENST00000644218.1:c.1057T>C	ENSP00000493574.1:p.Phe353Leu
ENST00000644683.1:c.*699T>C	ENSP00000494085.1:n.*699T>C
ENST00000644810.1:c.967T>C	ENSP00000495895.1:p.Phe323Leu
ENST00000644831.1:n.1422T>C
ENST00000644933.1:c.*112T>C	ENSP00000496133.1:n.*112T>C
ENST00000645285.1:c.*112T>C	ENSP00000495058.1:n.*112T>C
ENST00000645331.1:n.2451T>C
ENST00000645620.1:c.517T>C	ENSP00000493657.1:p.Phe173Leu
ENST00000646691.1:n.1021T>C
ENST00000646777.1:n.1579T>C
ENST00000647016.1:n.1726T>C
ENST00000647152.1:c.517T>C	ENSP00000495893.1:p.Phe173Leu
ENST00000647209.1:c.*1115T>C	ENSP00000495558.1:n.*1115T>C
ENST00000647346.1:n.2266T>C
ENST00000299427.10:c.1246T>C	ENSP00000299427.6:p.Phe416Leu
ENST00000524611.1:n.12T>C
ENST00000524924.1:n.201T>C
ENST00000532191.1:n.299T>C
ENST00000533371.5:c.517T>C	ENSP00000437066.1:p.Phe173Leu
ENST00000611494.4:c.1246T>C	ENSP00000484546.1:p.Phe416Leu
NM_000391.3:c.1246T>C	NP_000382.3:p.Phe416Leu
NM_000391.4:c.1246T>C MANE Select	NP_000382.3:p.Phe416Leu