Canonical Allele Identifier: CA379471956

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635797T>A (hg19) ; chr11:g.6614566T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614566T>A , CM000673.2:g.6614566T>A	GRCh38
NC_000011.9:g.6635797T>A , CM000673.1:g.6635797T>A	GRCh37
NC_000011.8:g.6592373T>A	NCBI36
NG_008653.1:g.9896A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1558A>T	ENSP00000507321.1:p.Lys520Ter
ENST00000299427.12:c.1672A>T MANE Select	ENSP00000299427.6:p.Lys558Ter
ENST00000524611.2:n.711A>T
ENST00000533371.6:c.943A>T	ENSP00000437066.1:p.Lys315Ter
ENST00000642892.1:c.943A>T	ENSP00000494165.1:p.Lys315Ter
ENST00000643342.1:c.745A>T
ENST00000643439.1:c.*1412A>T	ENSP00000495849.1:n.*1412A>T
ENST00000643479.1:n.1858A>T
ENST00000643516.1:c.1181A>T
ENST00000644218.1:c.1483A>T	ENSP00000493574.1:p.Lys495Ter
ENST00000644683.1:c.*1125A>T	ENSP00000494085.1:n.*1125A>T
ENST00000644810.1:c.1393A>T	ENSP00000495895.1:p.Lys465Ter
ENST00000644831.1:n.1848A>T
ENST00000644933.1:c.*538A>T	ENSP00000496133.1:n.*538A>T
ENST00000645285.1:c.*538A>T	ENSP00000495058.1:n.*538A>T
ENST00000645331.1:n.2877A>T
ENST00000645620.1:c.943A>T	ENSP00000493657.1:p.Lys315Ter
ENST00000646691.1:n.1559A>T
ENST00000646777.1:n.2005A>T
ENST00000647016.1:n.2152A>T
ENST00000647152.1:c.943A>T	ENSP00000495893.1:p.Lys315Ter
ENST00000647209.1:c.*1541A>T	ENSP00000495558.1:n.*1541A>T
ENST00000647346.1:n.2692A>T
ENST00000299427.10:c.1672A>T	ENSP00000299427.6:p.Lys558Ter
ENST00000533371.5:c.943A>T	ENSP00000437066.1:p.Lys315Ter
ENST00000611494.4:c.1671A>T	ENSP00000484546.1:p.Ter557Cys
NM_000391.3:c.1672A>T	NP_000382.3:p.Lys558Ter
NM_000391.4:c.1672A>T MANE Select	NP_000382.3:p.Lys558Ter