Canonical Allele Identifier: CA379475367

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638235T>C (hg19) ; chr11:g.6617004T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617004T>C , CM000673.2:g.6617004T>C	GRCh38
NC_000011.9:g.6638235T>C , CM000673.1:g.6638235T>C	GRCh37
NC_000011.8:g.6594811T>C	NCBI36
NG_008653.1:g.7458A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.544A>G	ENSP00000507321.1:p.Thr182Ala
ENST00000299427.12:c.658A>G MANE Select	ENSP00000299427.6:p.Thr220Ala
ENST00000436873.7:c.312+297A>G
ENST00000524788.2:n.1817A>G
ENST00000524903.2:n.1933A>G
ENST00000528807.2:n.314A>G
ENST00000530040.2:n.479+355A>G
ENST00000533371.6:c.-72A>G	ENSP00000437066.1:n.-72A>G
ENST00000534644.6:n.606A>G
ENST00000642892.1:c.-72A>G	ENSP00000494165.1:n.-72A>G
ENST00000643439.1:c.*398A>G	ENSP00000495849.1:n.*398A>G
ENST00000643479.1:n.687A>G
ENST00000643516.1:c.395+297A>G
ENST00000644151.1:n.2097A>G
ENST00000644218.1:c.658A>G	ENSP00000493574.1:p.Thr220Ala
ENST00000644683.1:c.*111A>G	ENSP00000494085.1:n.*111A>G
ENST00000644810.1:c.379A>G	ENSP00000495895.1:p.Thr127Ala
ENST00000644831.1:n.834A>G
ENST00000644933.1:c.-72A>G	ENSP00000496133.1:n.-72A>G
ENST00000645020.1:n.1833A>G
ENST00000645285.1:c.-72A>G	ENSP00000495058.1:n.-72A>G
ENST00000645331.1:n.1024A>G
ENST00000645620.1:c.-72A>G	ENSP00000493657.1:n.-72A>G
ENST00000646777.1:n.834A>G
ENST00000647016.1:n.1138A>G
ENST00000647152.1:c.-72A>G	ENSP00000495893.1:n.-72A>G
ENST00000647209.1:c.*527A>G	ENSP00000495558.1:n.*527A>G
ENST00000647346.1:n.1678A>G
ENST00000299427.10:c.658A>G	ENSP00000299427.6:p.Thr220Ala
ENST00000428886.6:n.827A>G
ENST00000436873.6:c.450+355A>G	ENSP00000398136.2:n.450+355A>G
ENST00000524788.1:n.358A>G
ENST00000528571.5:c.*398A>G	ENSP00000434647.1:n.*398A>G
ENST00000528807.1:n.208A>G
ENST00000533371.5:c.-72A>G	ENSP00000437066.1:n.-72A>G
ENST00000611494.4:c.658A>G	ENSP00000484546.1:p.Thr220Ala
NM_000391.3:c.658A>G	NP_000382.3:p.Thr220Ala
NM_000391.4:c.658A>G MANE Select	NP_000382.3:p.Thr220Ala