Canonical Allele Identifier: CA379471914

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635777T>A (hg19) ; chr11:g.6614546T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614546T>A , CM000673.2:g.6614546T>A	GRCh38
NC_000011.9:g.6635777T>A , CM000673.1:g.6635777T>A	GRCh37
NC_000011.8:g.6592353T>A	NCBI36
NG_008653.1:g.9916A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1578A>T	ENSP00000507321.1:p.Ter526Cys
ENST00000299427.12:c.1692A>T MANE Select	ENSP00000299427.6:p.Ter564Cys
ENST00000524611.2:n.731A>T
ENST00000533371.6:c.963A>T	ENSP00000437066.1:p.Ter321Cys
ENST00000642892.1:c.963A>T	ENSP00000494165.1:p.Ter321Cys
ENST00000643342.1:c.765A>T
ENST00000643439.1:c.*1432A>T	ENSP00000495849.1:n.*1432A>T
ENST00000643479.1:n.1878A>T
ENST00000643516.1:c.1201A>T
ENST00000644218.1:c.1503A>T	ENSP00000493574.1:p.Ter501Cys
ENST00000644683.1:c.*1145A>T	ENSP00000494085.1:n.*1145A>T
ENST00000644810.1:c.1413A>T	ENSP00000495895.1:p.Ter471Cys
ENST00000644831.1:n.1868A>T
ENST00000644933.1:c.*558A>T	ENSP00000496133.1:n.*558A>T
ENST00000645285.1:c.*558A>T	ENSP00000495058.1:n.*558A>T
ENST00000645331.1:n.2897A>T
ENST00000645620.1:c.963A>T	ENSP00000493657.1:p.Ter321Cys
ENST00000646691.1:n.1579A>T
ENST00000646777.1:n.2025A>T
ENST00000647016.1:n.2172A>T
ENST00000647152.1:c.963A>T	ENSP00000495893.1:p.Ter321Cys
ENST00000647209.1:c.*1561A>T	ENSP00000495558.1:n.*1561A>T
ENST00000647346.1:n.2712A>T
ENST00000299427.10:c.1692A>T	ENSP00000299427.6:p.Ter564Cys
ENST00000533371.5:c.963A>T	ENSP00000437066.1:p.Ter321Cys
ENST00000611494.4:c.*20A>T	ENSP00000484546.1:n.*20A>T
NM_000391.3:c.1692A>T	NP_000382.3:p.Ter564Cys
NM_000391.4:c.1692A>T MANE Select	NP_000382.3:p.Ter564Cys