Canonical Allele Identifier: CA379474909

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637919T>A (hg19) ; chr11:g.6616688T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616688T>A , CM000673.2:g.6616688T>A	GRCh38
NC_000011.9:g.6637919T>A , CM000673.1:g.6637919T>A	GRCh37
NC_000011.8:g.6594495T>A	NCBI36
NG_008653.1:g.7774A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.745A>T	ENSP00000507321.1:p.Ile249Phe
ENST00000299427.12:c.859A>T MANE Select	ENSP00000299427.6:p.Ile287Phe
ENST00000436873.7:c.313-614A>T
ENST00000524788.2:n.2018A>T
ENST00000524903.2:n.2134A>T
ENST00000528807.2:n.515A>T
ENST00000530040.2:n.480-185A>T
ENST00000533371.6:c.130A>T	ENSP00000437066.1:p.Ile44Phe
ENST00000642892.1:c.130A>T	ENSP00000494165.1:p.Ile44Phe
ENST00000643439.1:c.*599A>T	ENSP00000495849.1:n.*599A>T
ENST00000643479.1:n.888A>T
ENST00000643516.1:c.396-185A>T
ENST00000644151.1:n.2298A>T
ENST00000644218.1:c.859A>T	ENSP00000493574.1:p.Ile287Phe
ENST00000644683.1:c.*312A>T	ENSP00000494085.1:n.*312A>T
ENST00000644810.1:c.580A>T	ENSP00000495895.1:p.Ile194Phe
ENST00000644831.1:n.1035A>T
ENST00000644933.1:c.130A>T	ENSP00000496133.1:p.Ile44Phe
ENST00000645020.1:n.2149A>T
ENST00000645285.1:c.130A>T	ENSP00000495058.1:p.Ile44Phe
ENST00000645331.1:n.1225A>T
ENST00000645620.1:c.130A>T	ENSP00000493657.1:p.Ile44Phe
ENST00000646777.1:n.1035A>T
ENST00000647016.1:n.1339A>T
ENST00000647152.1:c.130A>T	ENSP00000495893.1:p.Ile44Phe
ENST00000647209.1:c.*728A>T	ENSP00000495558.1:n.*728A>T
ENST00000647346.1:n.1879A>T
ENST00000299427.10:c.859A>T	ENSP00000299427.6:p.Ile287Phe
ENST00000436873.6:c.451-185A>T	ENSP00000398136.2:n.451-185A>T
ENST00000528807.1:n.409A>T
ENST00000533371.5:c.130A>T	ENSP00000437066.1:p.Ile44Phe
ENST00000611494.4:c.859A>T	ENSP00000484546.1:p.Ile287Phe
NM_000391.3:c.859A>T	NP_000382.3:p.Ile287Phe
NM_000391.4:c.859A>T MANE Select	NP_000382.3:p.Ile287Phe