Canonical Allele Identifier: CA379471955

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635796T>A (hg19) ; chr11:g.6614565T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614565T>A , CM000673.2:g.6614565T>A	GRCh38
NC_000011.9:g.6635796T>A , CM000673.1:g.6635796T>A	GRCh37
NC_000011.8:g.6592372T>A	NCBI36
NG_008653.1:g.9897A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1559A>T	ENSP00000507321.1:p.Lys520Met
ENST00000299427.12:c.1673A>T MANE Select	ENSP00000299427.6:p.Lys558Met
ENST00000524611.2:n.712A>T
ENST00000533371.6:c.944A>T	ENSP00000437066.1:p.Lys315Met
ENST00000642892.1:c.944A>T	ENSP00000494165.1:p.Lys315Met
ENST00000643342.1:c.746A>T
ENST00000643439.1:c.*1413A>T	ENSP00000495849.1:n.*1413A>T
ENST00000643479.1:n.1859A>T
ENST00000643516.1:c.1182A>T
ENST00000644218.1:c.1484A>T	ENSP00000493574.1:p.Lys495Met
ENST00000644683.1:c.*1126A>T	ENSP00000494085.1:n.*1126A>T
ENST00000644810.1:c.1394A>T	ENSP00000495895.1:p.Lys465Met
ENST00000644831.1:n.1849A>T
ENST00000644933.1:c.*539A>T	ENSP00000496133.1:n.*539A>T
ENST00000645285.1:c.*539A>T	ENSP00000495058.1:n.*539A>T
ENST00000645331.1:n.2878A>T
ENST00000645620.1:c.944A>T	ENSP00000493657.1:p.Lys315Met
ENST00000646691.1:n.1560A>T
ENST00000646777.1:n.2006A>T
ENST00000647016.1:n.2153A>T
ENST00000647152.1:c.944A>T	ENSP00000495893.1:p.Lys315Met
ENST00000647209.1:c.*1542A>T	ENSP00000495558.1:n.*1542A>T
ENST00000647346.1:n.2693A>T
ENST00000299427.10:c.1673A>T	ENSP00000299427.6:p.Lys558Met
ENST00000533371.5:c.944A>T	ENSP00000437066.1:p.Lys315Met
ENST00000611494.4:c.*1A>T	ENSP00000484546.1:n.*1A>T
NM_000391.3:c.1673A>T	NP_000382.3:p.Lys558Met
NM_000391.4:c.1673A>T MANE Select	NP_000382.3:p.Lys558Met