Canonical Allele Identifier: CA379472201

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635903G>T (hg19) ; chr11:g.6614672G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614672G>T , CM000673.2:g.6614672G>T	GRCh38
NC_000011.9:g.6635903G>T , CM000673.1:g.6635903G>T	GRCh37
NC_000011.8:g.6592479G>T	NCBI36
NG_008653.1:g.9790C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1452C>A	ENSP00000507321.1:p.Cys484Ter
ENST00000299427.12:c.1566C>A MANE Select	ENSP00000299427.6:p.Cys522Ter
ENST00000524611.2:n.605C>A
ENST00000524924.2:n.686C>A
ENST00000533371.6:c.837C>A	ENSP00000437066.1:p.Cys279Ter
ENST00000642892.1:c.837C>A	ENSP00000494165.1:p.Cys279Ter
ENST00000643342.1:c.639C>A
ENST00000643439.1:c.*1306C>A	ENSP00000495849.1:n.*1306C>A
ENST00000643479.1:n.1752C>A
ENST00000643516.1:c.1075C>A
ENST00000644218.1:c.1377C>A	ENSP00000493574.1:p.Cys459Ter
ENST00000644683.1:c.*1019C>A	ENSP00000494085.1:n.*1019C>A
ENST00000644810.1:c.1287C>A	ENSP00000495895.1:p.Cys429Ter
ENST00000644831.1:n.1742C>A
ENST00000644933.1:c.*432C>A	ENSP00000496133.1:n.*432C>A
ENST00000645285.1:c.*432C>A	ENSP00000495058.1:n.*432C>A
ENST00000645331.1:n.2771C>A
ENST00000645620.1:c.837C>A	ENSP00000493657.1:p.Cys279Ter
ENST00000646691.1:n.1453C>A
ENST00000646777.1:n.1899C>A
ENST00000647016.1:n.2046C>A
ENST00000647152.1:c.837C>A	ENSP00000495893.1:p.Cys279Ter
ENST00000647209.1:c.*1435C>A	ENSP00000495558.1:n.*1435C>A
ENST00000647346.1:n.2586C>A
ENST00000299427.10:c.1566C>A	ENSP00000299427.6:p.Cys522Ter
ENST00000524611.1:n.444C>A
ENST00000533371.5:c.837C>A	ENSP00000437066.1:p.Cys279Ter
ENST00000611494.4:c.1566C>A	ENSP00000484546.1:p.Cys522Ter
NM_000391.3:c.1566C>A	NP_000382.3:p.Cys522Ter
NM_000391.4:c.1566C>A MANE Select	NP_000382.3:p.Cys522Ter