Canonical Allele Identifier: CA379472955

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636720T>A (hg19) ; chr11:g.6615489T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615489T>A , CM000673.2:g.6615489T>A	GRCh38
NC_000011.9:g.6636720T>A , CM000673.1:g.6636720T>A	GRCh37
NC_000011.8:g.6593296T>A	NCBI36
NG_008653.1:g.8973A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1105A>T	ENSP00000507321.1:p.Ile369Phe
ENST00000299427.12:c.1219A>T MANE Select	ENSP00000299427.6:p.Ile407Phe
ENST00000436873.7:c.456A>T
ENST00000524924.2:n.339A>T
ENST00000533371.6:c.490A>T	ENSP00000437066.1:p.Ile164Phe
ENST00000642892.1:c.490A>T	ENSP00000494165.1:p.Ile164Phe
ENST00000643342.1:c.292A>T
ENST00000643439.1:c.*959A>T	ENSP00000495849.1:n.*959A>T
ENST00000643479.1:n.1405A>T
ENST00000643516.1:c.728A>T
ENST00000644218.1:c.1030A>T	ENSP00000493574.1:p.Ile344Phe
ENST00000644683.1:c.*672A>T	ENSP00000494085.1:n.*672A>T
ENST00000644810.1:c.940A>T	ENSP00000495895.1:p.Ile314Phe
ENST00000644831.1:n.1395A>T
ENST00000644933.1:c.*85A>T	ENSP00000496133.1:n.*85A>T
ENST00000645285.1:c.*85A>T	ENSP00000495058.1:n.*85A>T
ENST00000645331.1:n.2424A>T
ENST00000645620.1:c.490A>T	ENSP00000493657.1:p.Ile164Phe
ENST00000646691.1:n.994A>T
ENST00000646777.1:n.1552A>T
ENST00000647016.1:n.1699A>T
ENST00000647152.1:c.490A>T	ENSP00000495893.1:p.Ile164Phe
ENST00000647209.1:c.*1088A>T	ENSP00000495558.1:n.*1088A>T
ENST00000647346.1:n.2239A>T
ENST00000299427.10:c.1219A>T	ENSP00000299427.6:p.Ile407Phe
ENST00000524924.1:n.174A>T
ENST00000532191.1:n.272A>T
ENST00000533371.5:c.490A>T	ENSP00000437066.1:p.Ile164Phe
ENST00000611494.4:c.1219A>T	ENSP00000484546.1:p.Ile407Phe
NM_000391.3:c.1219A>T	NP_000382.3:p.Ile407Phe
NM_000391.4:c.1219A>T MANE Select	NP_000382.3:p.Ile407Phe