Canonical Allele Identifier: CA379472119

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635868T>A (hg19) ; chr11:g.6614637T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614637T>A , CM000673.2:g.6614637T>A	GRCh38
NC_000011.9:g.6635868T>A , CM000673.1:g.6635868T>A	GRCh37
NC_000011.8:g.6592444T>A	NCBI36
NG_008653.1:g.9825A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1487A>T	ENSP00000507321.1:p.Gln496Leu
ENST00000299427.12:c.1601A>T MANE Select	ENSP00000299427.6:p.Gln534Leu
ENST00000524611.2:n.640A>T
ENST00000524924.2:n.721A>T
ENST00000533371.6:c.872A>T	ENSP00000437066.1:p.Gln291Leu
ENST00000642892.1:c.872A>T	ENSP00000494165.1:p.Gln291Leu
ENST00000643342.1:c.674A>T
ENST00000643439.1:c.*1341A>T	ENSP00000495849.1:n.*1341A>T
ENST00000643479.1:n.1787A>T
ENST00000643516.1:c.1110A>T
ENST00000644218.1:c.1412A>T	ENSP00000493574.1:p.Gln471Leu
ENST00000644683.1:c.*1054A>T	ENSP00000494085.1:n.*1054A>T
ENST00000644810.1:c.1322A>T	ENSP00000495895.1:p.Gln441Leu
ENST00000644831.1:n.1777A>T
ENST00000644933.1:c.*467A>T	ENSP00000496133.1:n.*467A>T
ENST00000645285.1:c.*467A>T	ENSP00000495058.1:n.*467A>T
ENST00000645331.1:n.2806A>T
ENST00000645620.1:c.872A>T	ENSP00000493657.1:p.Gln291Leu
ENST00000646691.1:n.1488A>T
ENST00000646777.1:n.1934A>T
ENST00000647016.1:n.2081A>T
ENST00000647152.1:c.872A>T	ENSP00000495893.1:p.Gln291Leu
ENST00000647209.1:c.*1470A>T	ENSP00000495558.1:n.*1470A>T
ENST00000647346.1:n.2621A>T
ENST00000299427.10:c.1601A>T	ENSP00000299427.6:p.Gln534Leu
ENST00000533371.5:c.872A>T	ENSP00000437066.1:p.Gln291Leu
ENST00000611494.4:c.1601A>T	ENSP00000484546.1:p.Gln534Leu
NM_000391.3:c.1601A>T	NP_000382.3:p.Gln534Leu
NM_000391.4:c.1601A>T MANE Select	NP_000382.3:p.Gln534Leu