Canonical Allele Identifier: CA379472104

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635861G>T (hg19) ; chr11:g.6614630G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614630G>T , CM000673.2:g.6614630G>T	GRCh38
NC_000011.9:g.6635861G>T , CM000673.1:g.6635861G>T	GRCh37
NC_000011.8:g.6592437G>T	NCBI36
NG_008653.1:g.9832C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1494C>A	ENSP00000507321.1:p.Phe498Leu
ENST00000299427.12:c.1608C>A MANE Select	ENSP00000299427.6:p.Phe536Leu
ENST00000524611.2:n.647C>A
ENST00000524924.2:n.728C>A
ENST00000533371.6:c.879C>A	ENSP00000437066.1:p.Phe293Leu
ENST00000642892.1:c.879C>A	ENSP00000494165.1:p.Phe293Leu
ENST00000643342.1:c.681C>A
ENST00000643439.1:c.*1348C>A	ENSP00000495849.1:n.*1348C>A
ENST00000643479.1:n.1794C>A
ENST00000643516.1:c.1117C>A
ENST00000644218.1:c.1419C>A	ENSP00000493574.1:p.Phe473Leu
ENST00000644683.1:c.*1061C>A	ENSP00000494085.1:n.*1061C>A
ENST00000644810.1:c.1329C>A	ENSP00000495895.1:p.Phe443Leu
ENST00000644831.1:n.1784C>A
ENST00000644933.1:c.*474C>A	ENSP00000496133.1:n.*474C>A
ENST00000645285.1:c.*474C>A	ENSP00000495058.1:n.*474C>A
ENST00000645331.1:n.2813C>A
ENST00000645620.1:c.879C>A	ENSP00000493657.1:p.Phe293Leu
ENST00000646691.1:n.1495C>A
ENST00000646777.1:n.1941C>A
ENST00000647016.1:n.2088C>A
ENST00000647152.1:c.879C>A	ENSP00000495893.1:p.Phe293Leu
ENST00000647209.1:c.*1477C>A	ENSP00000495558.1:n.*1477C>A
ENST00000647346.1:n.2628C>A
ENST00000299427.10:c.1608C>A	ENSP00000299427.6:p.Phe536Leu
ENST00000533371.5:c.879C>A	ENSP00000437066.1:p.Phe293Leu
ENST00000611494.4:c.1608C>A	ENSP00000484546.1:p.Phe536Leu
NM_000391.3:c.1608C>A	NP_000382.3:p.Phe536Leu
NM_000391.4:c.1608C>A MANE Select	NP_000382.3:p.Phe536Leu