Canonical Allele Identifier: CA379472934

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2012692
• ClinVar RCV Id: RCV002843300
• MyVariant Identifiers: chr11:g.6636711C>A (hg19) ; chr11:g.6615480C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615480C>A , CM000673.2:g.6615480C>A	GRCh38
NC_000011.9:g.6636711C>A , CM000673.1:g.6636711C>A	GRCh37
NC_000011.8:g.6593287C>A	NCBI36
NG_008653.1:g.8982G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1114G>T	ENSP00000507321.1:p.Gly372Cys
ENST00000299427.12:c.1228G>T MANE Select	ENSP00000299427.6:p.Gly410Cys
ENST00000436873.7:c.465G>T
ENST00000524924.2:n.348G>T
ENST00000533371.6:c.499G>T	ENSP00000437066.1:p.Gly167Cys
ENST00000642892.1:c.499G>T	ENSP00000494165.1:p.Gly167Cys
ENST00000643342.1:c.301G>T
ENST00000643439.1:c.*968G>T	ENSP00000495849.1:n.*968G>T
ENST00000643479.1:n.1414G>T
ENST00000643516.1:c.737G>T
ENST00000644218.1:c.1039G>T	ENSP00000493574.1:p.Gly347Cys
ENST00000644683.1:c.*681G>T	ENSP00000494085.1:n.*681G>T
ENST00000644810.1:c.949G>T	ENSP00000495895.1:p.Gly317Cys
ENST00000644831.1:n.1404G>T
ENST00000644933.1:c.*94G>T	ENSP00000496133.1:n.*94G>T
ENST00000645285.1:c.*94G>T	ENSP00000495058.1:n.*94G>T
ENST00000645331.1:n.2433G>T
ENST00000645620.1:c.499G>T	ENSP00000493657.1:p.Gly167Cys
ENST00000646691.1:n.1003G>T
ENST00000646777.1:n.1561G>T
ENST00000647016.1:n.1708G>T
ENST00000647152.1:c.499G>T	ENSP00000495893.1:p.Gly167Cys
ENST00000647209.1:c.*1097G>T	ENSP00000495558.1:n.*1097G>T
ENST00000647346.1:n.2248G>T
ENST00000299427.10:c.1228G>T	ENSP00000299427.6:p.Gly410Cys
ENST00000524924.1:n.183G>T
ENST00000532191.1:n.281G>T
ENST00000533371.5:c.499G>T	ENSP00000437066.1:p.Gly167Cys
ENST00000611494.4:c.1228G>T	ENSP00000484546.1:p.Gly410Cys
NM_000391.3:c.1228G>T	NP_000382.3:p.Gly410Cys
NM_000391.4:c.1228G>T MANE Select	NP_000382.3:p.Gly410Cys