Canonical Allele Identifier: CA379476179

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638873A>C (hg19) ; chr11:g.6617642A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617642A>C , CM000673.2:g.6617642A>C	GRCh38
NC_000011.9:g.6638873A>C , CM000673.1:g.6638873A>C	GRCh37
NC_000011.8:g.6595449A>C	NCBI36
NG_008653.1:g.6820T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.250T>G	ENSP00000507321.1:p.Cys84Gly
ENST00000299427.12:c.364T>G MANE Select	ENSP00000299427.6:p.Cys122Gly
ENST00000428886.7:n.452T>G
ENST00000436873.7:c.168T>G
ENST00000524788.2:n.1376T>G
ENST00000524903.2:n.1492T>G
ENST00000528571.6:c.*104T>G	ENSP00000434647.1:n.*104T>G
ENST00000530040.2:n.393T>G
ENST00000533371.6:c.-366T>G	ENSP00000437066.1:n.-366T>G
ENST00000534644.6:n.365T>G
ENST00000642892.1:c.-313T>G	ENSP00000494165.1:n.-313T>G
ENST00000643439.1:c.*104T>G	ENSP00000495849.1:n.*104T>G
ENST00000643479.1:n.393T>G
ENST00000643516.1:c.251T>G
ENST00000644151.1:n.1656T>G
ENST00000644218.1:c.364T>G	ENSP00000493574.1:p.Cys122Gly
ENST00000644683.1:c.364T>G	ENSP00000494085.1:p.Cys122Gly
ENST00000644810.1:c.230-489T>G	ENSP00000495895.1:n.230-489T>G
ENST00000644831.1:n.393T>G
ENST00000644933.1:c.-366T>G	ENSP00000496133.1:n.-366T>G
ENST00000645020.1:n.1392T>G
ENST00000645285.1:c.-366T>G	ENSP00000495058.1:n.-366T>G
ENST00000645331.1:n.386T>G
ENST00000645620.1:c.-308T>G	ENSP00000493657.1:n.-308T>G
ENST00000646777.1:n.393T>G
ENST00000647016.1:n.697T>G
ENST00000647152.1:c.-366T>G	ENSP00000495893.1:n.-366T>G
ENST00000647209.1:c.*233T>G	ENSP00000495558.1:n.*233T>G
ENST00000647346.1:n.1384T>G
ENST00000299427.10:c.364T>G	ENSP00000299427.6:p.Cys122Gly
ENST00000428886.6:n.386T>G
ENST00000436873.6:c.364T>G	ENSP00000398136.2:p.Cys122Gly
ENST00000528571.5:c.*104T>G	ENSP00000434647.1:n.*104T>G
ENST00000530040.1:n.476T>G
ENST00000533371.5:c.-366T>G	ENSP00000437066.1:n.-366T>G
ENST00000534644.5:n.349T>G
ENST00000611494.4:c.364T>G	ENSP00000484546.1:p.Cys122Gly
NM_000391.3:c.364T>G	NP_000382.3:p.Cys122Gly
NM_000391.4:c.364T>G MANE Select	NP_000382.3:p.Cys122Gly