Canonical Allele Identifier: CA379472983

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636732T>A (hg19) ; chr11:g.6615501T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615501T>A , CM000673.2:g.6615501T>A	GRCh38
NC_000011.9:g.6636732T>A , CM000673.1:g.6636732T>A	GRCh37
NC_000011.8:g.6593308T>A	NCBI36
NG_008653.1:g.8961A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1093A>T	ENSP00000507321.1:p.Ile365Phe
ENST00000299427.12:c.1207A>T MANE Select	ENSP00000299427.6:p.Ile403Phe
ENST00000436873.7:c.444A>T
ENST00000524924.2:n.327A>T
ENST00000533371.6:c.478A>T	ENSP00000437066.1:p.Ile160Phe
ENST00000642892.1:c.478A>T	ENSP00000494165.1:p.Ile160Phe
ENST00000643342.1:c.280A>T
ENST00000643439.1:c.*947A>T	ENSP00000495849.1:n.*947A>T
ENST00000643479.1:n.1393A>T
ENST00000643516.1:c.716A>T
ENST00000644218.1:c.1018A>T	ENSP00000493574.1:p.Ile340Phe
ENST00000644683.1:c.*660A>T	ENSP00000494085.1:n.*660A>T
ENST00000644810.1:c.928A>T	ENSP00000495895.1:p.Ile310Phe
ENST00000644831.1:n.1383A>T
ENST00000644933.1:c.*73A>T	ENSP00000496133.1:n.*73A>T
ENST00000645285.1:c.*73A>T	ENSP00000495058.1:n.*73A>T
ENST00000645331.1:n.2412A>T
ENST00000645620.1:c.478A>T	ENSP00000493657.1:p.Ile160Phe
ENST00000646691.1:n.982A>T
ENST00000646777.1:n.1540A>T
ENST00000647016.1:n.1687A>T
ENST00000647152.1:c.478A>T	ENSP00000495893.1:p.Ile160Phe
ENST00000647209.1:c.*1076A>T	ENSP00000495558.1:n.*1076A>T
ENST00000647346.1:n.2227A>T
ENST00000299427.10:c.1207A>T	ENSP00000299427.6:p.Ile403Phe
ENST00000524924.1:n.162A>T
ENST00000532191.1:n.260A>T
ENST00000533371.5:c.478A>T	ENSP00000437066.1:p.Ile160Phe
ENST00000611494.4:c.1207A>T	ENSP00000484546.1:p.Ile403Phe
NM_000391.3:c.1207A>T	NP_000382.3:p.Ile403Phe
NM_000391.4:c.1207A>T MANE Select	NP_000382.3:p.Ile403Phe