Canonical Allele Identifier: CA379476171

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638871G>T (hg19) ; chr11:g.6617640G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617640G>T , CM000673.2:g.6617640G>T	GRCh38
NC_000011.9:g.6638871G>T , CM000673.1:g.6638871G>T	GRCh37
NC_000011.8:g.6595447G>T	NCBI36
NG_008653.1:g.6822C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.252C>A	ENSP00000507321.1:p.Cys84Ter
ENST00000299427.12:c.366C>A MANE Select	ENSP00000299427.6:p.Cys122Ter
ENST00000428886.7:n.454C>A
ENST00000436873.7:c.170C>A
ENST00000524788.2:n.1378C>A
ENST00000524903.2:n.1494C>A
ENST00000528571.6:c.*106C>A	ENSP00000434647.1:n.*106C>A
ENST00000530040.2:n.395C>A
ENST00000533371.6:c.-364C>A	ENSP00000437066.1:n.-364C>A
ENST00000534644.6:n.367C>A
ENST00000642892.1:c.-311C>A	ENSP00000494165.1:n.-311C>A
ENST00000643439.1:c.*106C>A	ENSP00000495849.1:n.*106C>A
ENST00000643479.1:n.395C>A
ENST00000643516.1:c.253C>A
ENST00000644151.1:n.1658C>A
ENST00000644218.1:c.366C>A	ENSP00000493574.1:p.Cys122Ter
ENST00000644683.1:c.366C>A	ENSP00000494085.1:p.Cys122Ter
ENST00000644810.1:c.230-487C>A	ENSP00000495895.1:n.230-487C>A
ENST00000644831.1:n.395C>A
ENST00000644933.1:c.-364C>A	ENSP00000496133.1:n.-364C>A
ENST00000645020.1:n.1394C>A
ENST00000645285.1:c.-364C>A	ENSP00000495058.1:n.-364C>A
ENST00000645331.1:n.388C>A
ENST00000645620.1:c.-306C>A	ENSP00000493657.1:n.-306C>A
ENST00000646777.1:n.395C>A
ENST00000647016.1:n.699C>A
ENST00000647152.1:c.-364C>A	ENSP00000495893.1:n.-364C>A
ENST00000647209.1:c.*235C>A	ENSP00000495558.1:n.*235C>A
ENST00000647346.1:n.1386C>A
ENST00000299427.10:c.366C>A	ENSP00000299427.6:p.Cys122Ter
ENST00000428886.6:n.388C>A
ENST00000436873.6:c.366C>A	ENSP00000398136.2:p.Cys122Ter
ENST00000528571.5:c.*106C>A	ENSP00000434647.1:n.*106C>A
ENST00000530040.1:n.478C>A
ENST00000533371.5:c.-364C>A	ENSP00000437066.1:n.-364C>A
ENST00000534644.5:n.351C>A
ENST00000611494.4:c.366C>A	ENSP00000484546.1:p.Cys122Ter
NM_000391.3:c.366C>A	NP_000382.3:p.Cys122Ter
NM_000391.4:c.366C>A MANE Select	NP_000382.3:p.Cys122Ter