Canonical Allele Identifier: CA472769746

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635903G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1452C>T	ENSP00000507321.1:p.Cys484=
ENST00000299427.12:c.1566C>T MANE Select	ENSP00000299427.6:p.Cys522=
ENST00000524611.2:n.605C>T
ENST00000524924.2:n.686C>T
ENST00000533371.6:c.837C>T	ENSP00000437066.1:p.Cys279=
ENST00000642892.1:c.837C>T	ENSP00000494165.1:p.Cys279=
ENST00000643342.1:c.639C>T
ENST00000643439.1:c.*1306C>T	ENSP00000495849.1:n.*1306C>T
ENST00000643479.1:n.1752C>T
ENST00000643516.1:c.1075C>T
ENST00000644218.1:c.1377C>T	ENSP00000493574.1:p.Cys459=
ENST00000644683.1:c.*1019C>T	ENSP00000494085.1:n.*1019C>T
ENST00000644810.1:c.1287C>T	ENSP00000495895.1:p.Cys429=
ENST00000644831.1:n.1742C>T
ENST00000644933.1:c.*432C>T	ENSP00000496133.1:n.*432C>T
ENST00000645285.1:c.*432C>T	ENSP00000495058.1:n.*432C>T
ENST00000645331.1:n.2771C>T
ENST00000645620.1:c.837C>T	ENSP00000493657.1:p.Cys279=
ENST00000646691.1:n.1453C>T
ENST00000646777.1:n.1899C>T
ENST00000647016.1:n.2046C>T
ENST00000647152.1:c.837C>T	ENSP00000495893.1:p.Cys279=
ENST00000647209.1:c.*1435C>T	ENSP00000495558.1:n.*1435C>T
ENST00000647346.1:n.2586C>T
ENST00000299427.10:c.1566C>T	ENSP00000299427.6:p.Cys522=
ENST00000524611.1:n.444C>T
ENST00000533371.5:c.837C>T	ENSP00000437066.1:p.Cys279=
ENST00000611494.4:c.1566C>T	ENSP00000484546.1:p.Cys522=
NM_000391.3:c.1566C>T	NP_000382.3:p.Cys522=
NM_000391.4:c.1566C>T MANE Select	NP_000382.3:p.Cys522=