Canonical Allele Identifier: CA379471915

Gene: TPP1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1578A>G	ENSP00000507321.1:p.Ter526Trp
ENST00000299427.12:c.1692A>G MANE Select	ENSP00000299427.6:p.Ter564Trp
ENST00000524611.2:n.731A>G
ENST00000533371.6:c.963A>G	ENSP00000437066.1:p.Ter321Trp
ENST00000642892.1:c.963A>G	ENSP00000494165.1:p.Ter321Trp
ENST00000643342.1:c.765A>G
ENST00000643439.1:c.*1432A>G	ENSP00000495849.1:n.*1432A>G
ENST00000643479.1:n.1878A>G
ENST00000643516.1:c.1201A>G
ENST00000644218.1:c.1503A>G	ENSP00000493574.1:p.Ter501Trp
ENST00000644683.1:c.*1145A>G	ENSP00000494085.1:n.*1145A>G
ENST00000644810.1:c.1413A>G	ENSP00000495895.1:p.Ter471Trp
ENST00000644831.1:n.1868A>G
ENST00000644933.1:c.*558A>G	ENSP00000496133.1:n.*558A>G
ENST00000645285.1:c.*558A>G	ENSP00000495058.1:n.*558A>G
ENST00000645331.1:n.2897A>G
ENST00000645620.1:c.963A>G	ENSP00000493657.1:p.Ter321Trp
ENST00000646691.1:n.1579A>G
ENST00000646777.1:n.2025A>G
ENST00000647016.1:n.2172A>G
ENST00000647152.1:c.963A>G	ENSP00000495893.1:p.Ter321Trp
ENST00000647209.1:c.*1561A>G	ENSP00000495558.1:n.*1561A>G
ENST00000647346.1:n.2712A>G
ENST00000299427.10:c.1692A>G	ENSP00000299427.6:p.Ter564Trp
ENST00000533371.5:c.963A>G	ENSP00000437066.1:p.Ter321Trp
ENST00000611494.4:c.*20A>G	ENSP00000484546.1:n.*20A>G
NM_000391.3:c.1692A>G	NP_000382.3:p.Ter564Trp
NM_000391.4:c.1692A>G MANE Select	NP_000382.3:p.Ter564Trp