Canonical Allele Identifier: CA379475680

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638537T>C (hg19) ; chr11:g.6617306T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617306T>C , CM000673.2:g.6617306T>C	GRCh38
NC_000011.9:g.6638537T>C , CM000673.1:g.6638537T>C	GRCh37
NC_000011.8:g.6595113T>C	NCBI36
NG_008653.1:g.7156A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.389A>G	ENSP00000507321.1:p.Asp130Gly
ENST00000299427.12:c.503A>G MANE Select	ENSP00000299427.6:p.Asp168Gly
ENST00000428886.7:n.591A>G
ENST00000436873.7:c.307A>G
ENST00000524788.2:n.1515A>G
ENST00000524903.2:n.1631A>G
ENST00000528571.6:c.*243A>G	ENSP00000434647.1:n.*243A>G
ENST00000528807.2:n.159A>G
ENST00000530040.2:n.479+53A>G
ENST00000533371.6:c.-227A>G	ENSP00000437066.1:n.-227A>G
ENST00000534644.6:n.456+48A>G
ENST00000642892.1:c.-222+48A>G	ENSP00000494165.1:n.-222+48A>G
ENST00000643439.1:c.*243A>G	ENSP00000495849.1:n.*243A>G
ENST00000643479.1:n.532A>G
ENST00000643516.1:c.390A>G
ENST00000644151.1:n.1795A>G
ENST00000644218.1:c.503A>G	ENSP00000493574.1:p.Asp168Gly
ENST00000644683.1:c.450+53A>G	ENSP00000494085.1:n.450+53A>G
ENST00000644810.1:c.230-153A>G	ENSP00000495895.1:n.230-153A>G
ENST00000644831.1:n.532A>G
ENST00000644933.1:c.-227A>G	ENSP00000496133.1:n.-227A>G
ENST00000645020.1:n.1531A>G
ENST00000645285.1:c.-227A>G	ENSP00000495058.1:n.-227A>G
ENST00000645331.1:n.722A>G
ENST00000645620.1:c.-222+53A>G	ENSP00000493657.1:n.-222+53A>G
ENST00000646777.1:n.532A>G
ENST00000647016.1:n.836A>G
ENST00000647152.1:c.-227A>G	ENSP00000495893.1:n.-227A>G
ENST00000647209.1:c.*372A>G	ENSP00000495558.1:n.*372A>G
ENST00000647346.1:n.1523A>G
ENST00000299427.10:c.503A>G	ENSP00000299427.6:p.Asp168Gly
ENST00000428886.6:n.525A>G
ENST00000436873.6:c.450+53A>G	ENSP00000398136.2:n.450+53A>G
ENST00000524788.1:n.56A>G
ENST00000528571.5:c.*243A>G	ENSP00000434647.1:n.*243A>G
ENST00000533371.5:c.-227A>G	ENSP00000437066.1:n.-227A>G
ENST00000534644.5:n.488A>G
ENST00000611494.4:c.503A>G	ENSP00000484546.1:p.Asp168Gly
NM_000391.3:c.503A>G	NP_000382.3:p.Asp168Gly
NM_000391.4:c.503A>G MANE Select	NP_000382.3:p.Asp168Gly