Canonical Allele Identifier: CA379475937

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638615A>T (hg19) ; chr11:g.6617384A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617384A>T , CM000673.2:g.6617384A>T	GRCh38
NC_000011.9:g.6638615A>T , CM000673.1:g.6638615A>T	GRCh37
NC_000011.8:g.6595191A>T	NCBI36
NG_008653.1:g.7078T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.311T>A	ENSP00000507321.1:p.Val104Glu
ENST00000299427.12:c.425T>A MANE Select	ENSP00000299427.6:p.Val142Glu
ENST00000428886.7:n.513T>A
ENST00000436873.7:c.229T>A
ENST00000524788.2:n.1437T>A
ENST00000524903.2:n.1553T>A
ENST00000528571.6:c.*165T>A	ENSP00000434647.1:n.*165T>A
ENST00000528807.2:n.81T>A
ENST00000530040.2:n.454T>A
ENST00000533371.6:c.-305T>A	ENSP00000437066.1:n.-305T>A
ENST00000534644.6:n.426T>A
ENST00000642892.1:c.-252T>A	ENSP00000494165.1:n.-252T>A
ENST00000643439.1:c.*165T>A	ENSP00000495849.1:n.*165T>A
ENST00000643479.1:n.454T>A
ENST00000643516.1:c.312T>A
ENST00000644151.1:n.1717T>A
ENST00000644218.1:c.425T>A	ENSP00000493574.1:p.Val142Glu
ENST00000644683.1:c.425T>A	ENSP00000494085.1:p.Val142Glu
ENST00000644810.1:c.230-231T>A	ENSP00000495895.1:n.230-231T>A
ENST00000644831.1:n.454T>A
ENST00000644933.1:c.-305T>A	ENSP00000496133.1:n.-305T>A
ENST00000645020.1:n.1453T>A
ENST00000645285.1:c.-305T>A	ENSP00000495058.1:n.-305T>A
ENST00000645331.1:n.644T>A
ENST00000645620.1:c.-247T>A	ENSP00000493657.1:n.-247T>A
ENST00000646777.1:n.454T>A
ENST00000647016.1:n.758T>A
ENST00000647152.1:c.-305T>A	ENSP00000495893.1:n.-305T>A
ENST00000647209.1:c.*294T>A	ENSP00000495558.1:n.*294T>A
ENST00000647346.1:n.1445T>A
ENST00000299427.10:c.425T>A	ENSP00000299427.6:p.Val142Glu
ENST00000428886.6:n.447T>A
ENST00000436873.6:c.425T>A	ENSP00000398136.2:p.Val142Glu
ENST00000528571.5:c.*165T>A	ENSP00000434647.1:n.*165T>A
ENST00000530040.1:n.537T>A
ENST00000533371.5:c.-305T>A	ENSP00000437066.1:n.-305T>A
ENST00000534644.5:n.410T>A
ENST00000611494.4:c.425T>A	ENSP00000484546.1:p.Val142Glu
NM_000391.3:c.425T>A	NP_000382.3:p.Val142Glu
NM_000391.4:c.425T>A MANE Select	NP_000382.3:p.Val142Glu