Canonical Allele Identifier: CA379476158

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638868C>T (hg19) ; chr11:g.6617637C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617637C>T , CM000673.2:g.6617637C>T	GRCh38
NC_000011.9:g.6638868C>T , CM000673.1:g.6638868C>T	GRCh37
NC_000011.8:g.6595444C>T	NCBI36
NG_008653.1:g.6825G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.255G>A	ENSP00000507321.1:p.Trp85Ter
ENST00000299427.12:c.369G>A MANE Select	ENSP00000299427.6:p.Trp123Ter
ENST00000428886.7:n.457G>A
ENST00000436873.7:c.173G>A
ENST00000524788.2:n.1381G>A
ENST00000524903.2:n.1497G>A
ENST00000528571.6:c.*109G>A	ENSP00000434647.1:n.*109G>A
ENST00000530040.2:n.398G>A
ENST00000533371.6:c.-361G>A	ENSP00000437066.1:n.-361G>A
ENST00000534644.6:n.370G>A
ENST00000642892.1:c.-308G>A	ENSP00000494165.1:n.-308G>A
ENST00000643439.1:c.*109G>A	ENSP00000495849.1:n.*109G>A
ENST00000643479.1:n.398G>A
ENST00000643516.1:c.256G>A
ENST00000644151.1:n.1661G>A
ENST00000644218.1:c.369G>A	ENSP00000493574.1:p.Trp123Ter
ENST00000644683.1:c.369G>A	ENSP00000494085.1:p.Trp123Ter
ENST00000644810.1:c.230-484G>A	ENSP00000495895.1:n.230-484G>A
ENST00000644831.1:n.398G>A
ENST00000644933.1:c.-361G>A	ENSP00000496133.1:n.-361G>A
ENST00000645020.1:n.1397G>A
ENST00000645285.1:c.-361G>A	ENSP00000495058.1:n.-361G>A
ENST00000645331.1:n.391G>A
ENST00000645620.1:c.-303G>A	ENSP00000493657.1:n.-303G>A
ENST00000646777.1:n.398G>A
ENST00000647016.1:n.702G>A
ENST00000647152.1:c.-361G>A	ENSP00000495893.1:n.-361G>A
ENST00000647209.1:c.*238G>A	ENSP00000495558.1:n.*238G>A
ENST00000647346.1:n.1389G>A
ENST00000299427.10:c.369G>A	ENSP00000299427.6:p.Trp123Ter
ENST00000428886.6:n.391G>A
ENST00000436873.6:c.369G>A	ENSP00000398136.2:p.Trp123Ter
ENST00000528571.5:c.*109G>A	ENSP00000434647.1:n.*109G>A
ENST00000530040.1:n.481G>A
ENST00000533371.5:c.-361G>A	ENSP00000437066.1:n.-361G>A
ENST00000534644.5:n.354G>A
ENST00000611494.4:c.369G>A	ENSP00000484546.1:p.Trp123Ter
NM_000391.3:c.369G>A	NP_000382.3:p.Trp123Ter
NM_000391.4:c.369G>A MANE Select	NP_000382.3:p.Trp123Ter