Canonical Allele Identifier: CA379475817

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638580G>C (hg19) ; chr11:g.6617349G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617349G>C , CM000673.2:g.6617349G>C	GRCh38
NC_000011.9:g.6638580G>C , CM000673.1:g.6638580G>C	GRCh37
NC_000011.8:g.6595156G>C	NCBI36
NG_008653.1:g.7113C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.346C>G	ENSP00000507321.1:p.Pro116Ala
ENST00000299427.12:c.460C>G MANE Select	ENSP00000299427.6:p.Pro154Ala
ENST00000428886.7:n.548C>G
ENST00000436873.7:c.264C>G
ENST00000524788.2:n.1472C>G
ENST00000524903.2:n.1588C>G
ENST00000528571.6:c.*200C>G	ENSP00000434647.1:n.*200C>G
ENST00000528807.2:n.116C>G
ENST00000530040.2:n.479+10C>G
ENST00000533371.6:c.-270C>G	ENSP00000437066.1:n.-270C>G
ENST00000534644.6:n.456+5C>G
ENST00000642892.1:c.-222+5C>G	ENSP00000494165.1:n.-222+5C>G
ENST00000643439.1:c.*200C>G	ENSP00000495849.1:n.*200C>G
ENST00000643479.1:n.489C>G
ENST00000643516.1:c.347C>G
ENST00000644151.1:n.1752C>G
ENST00000644218.1:c.460C>G	ENSP00000493574.1:p.Pro154Ala
ENST00000644683.1:c.450+10C>G	ENSP00000494085.1:n.450+10C>G
ENST00000644810.1:c.230-196C>G	ENSP00000495895.1:n.230-196C>G
ENST00000644831.1:n.489C>G
ENST00000644933.1:c.-270C>G	ENSP00000496133.1:n.-270C>G
ENST00000645020.1:n.1488C>G
ENST00000645285.1:c.-270C>G	ENSP00000495058.1:n.-270C>G
ENST00000645331.1:n.679C>G
ENST00000645620.1:c.-222+10C>G	ENSP00000493657.1:n.-222+10C>G
ENST00000646777.1:n.489C>G
ENST00000647016.1:n.793C>G
ENST00000647152.1:c.-270C>G	ENSP00000495893.1:n.-270C>G
ENST00000647209.1:c.*329C>G	ENSP00000495558.1:n.*329C>G
ENST00000647346.1:n.1480C>G
ENST00000299427.10:c.460C>G	ENSP00000299427.6:p.Pro154Ala
ENST00000428886.6:n.482C>G
ENST00000436873.6:c.450+10C>G	ENSP00000398136.2:n.450+10C>G
ENST00000524788.1:n.13C>G
ENST00000528571.5:c.*200C>G	ENSP00000434647.1:n.*200C>G
ENST00000533371.5:c.-270C>G	ENSP00000437066.1:n.-270C>G
ENST00000534644.5:n.445C>G
ENST00000611494.4:c.460C>G	ENSP00000484546.1:p.Pro154Ala
NM_000391.3:c.460C>G	NP_000382.3:p.Pro154Ala
NM_000391.4:c.460C>G MANE Select	NP_000382.3:p.Pro154Ala