Canonical Allele Identifier: CA379475547

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638326C>A (hg19) ; chr11:g.6617095C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617095C>A , CM000673.2:g.6617095C>A	GRCh38
NC_000011.9:g.6638326C>A , CM000673.1:g.6638326C>A	GRCh37
NC_000011.8:g.6594902C>A	NCBI36
NG_008653.1:g.7367G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.453G>T	ENSP00000507321.1:p.Gln151His
ENST00000299427.12:c.567G>T MANE Select	ENSP00000299427.6:p.Gln189His
ENST00000428886.7:n.802G>T
ENST00000436873.7:c.312+206G>T
ENST00000524788.2:n.1726G>T
ENST00000524903.2:n.1842G>T
ENST00000528807.2:n.223G>T
ENST00000530040.2:n.479+264G>T
ENST00000533371.6:c.-163G>T	ENSP00000437066.1:n.-163G>T
ENST00000534644.6:n.515G>T
ENST00000642892.1:c.-163G>T	ENSP00000494165.1:n.-163G>T
ENST00000643439.1:c.*307G>T	ENSP00000495849.1:n.*307G>T
ENST00000643479.1:n.596G>T
ENST00000643516.1:c.395+206G>T
ENST00000644151.1:n.2006G>T
ENST00000644218.1:c.567G>T	ENSP00000493574.1:p.Gln189His
ENST00000644683.1:c.*20G>T	ENSP00000494085.1:n.*20G>T
ENST00000644810.1:c.288G>T	ENSP00000495895.1:p.Gln96His
ENST00000644831.1:n.743G>T
ENST00000644933.1:c.-163G>T	ENSP00000496133.1:n.-163G>T
ENST00000645020.1:n.1742G>T
ENST00000645285.1:c.-163G>T	ENSP00000495058.1:n.-163G>T
ENST00000645331.1:n.933G>T
ENST00000645620.1:c.-163G>T	ENSP00000493657.1:n.-163G>T
ENST00000646777.1:n.743G>T
ENST00000647016.1:n.1047G>T
ENST00000647152.1:c.-163G>T	ENSP00000495893.1:n.-163G>T
ENST00000647209.1:c.*436G>T	ENSP00000495558.1:n.*436G>T
ENST00000647346.1:n.1587G>T
ENST00000299427.10:c.567G>T	ENSP00000299427.6:p.Gln189His
ENST00000428886.6:n.736G>T
ENST00000436873.6:c.450+264G>T	ENSP00000398136.2:n.450+264G>T
ENST00000524788.1:n.267G>T
ENST00000528571.5:c.*307G>T	ENSP00000434647.1:n.*307G>T
ENST00000528807.1:n.117G>T
ENST00000533371.5:c.-163G>T	ENSP00000437066.1:n.-163G>T
ENST00000534644.5:n.552G>T
ENST00000611494.4:c.567G>T	ENSP00000484546.1:p.Gln189His
NM_000391.3:c.567G>T	NP_000382.3:p.Gln189His
NM_000391.4:c.567G>T MANE Select	NP_000382.3:p.Gln189His