Canonical Allele Identifier: CA379476477

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638948G>C (hg19) ; chr11:g.6617717G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617717G>C , CM000673.2:g.6617717G>C	GRCh38
NC_000011.9:g.6638948G>C , CM000673.1:g.6638948G>C	GRCh37
NC_000011.8:g.6595524G>C	NCBI36
NG_008653.1:g.6745C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.175C>G	ENSP00000507321.1:p.His59Asp
ENST00000299427.12:c.289C>G MANE Select	ENSP00000299427.6:p.His97Asp
ENST00000428886.7:n.377C>G
ENST00000436873.7:c.93C>G
ENST00000524788.2:n.1301C>G
ENST00000524903.2:n.1417C>G
ENST00000528571.6:c.*29C>G	ENSP00000434647.1:n.*29C>G
ENST00000530040.2:n.318C>G
ENST00000533371.6:c.-441C>G	ENSP00000437066.1:n.-441C>G
ENST00000534644.6:n.290C>G
ENST00000642892.1:c.-388C>G	ENSP00000494165.1:n.-388C>G
ENST00000643439.1:c.*29C>G	ENSP00000495849.1:n.*29C>G
ENST00000643479.1:n.318C>G
ENST00000643516.1:c.176C>G
ENST00000644151.1:n.1581C>G
ENST00000644218.1:c.289C>G	ENSP00000493574.1:p.His97Asp
ENST00000644683.1:c.289C>G	ENSP00000494085.1:p.His97Asp
ENST00000644810.1:c.230-564C>G	ENSP00000495895.1:n.230-564C>G
ENST00000644831.1:n.318C>G
ENST00000644933.1:c.-441C>G	ENSP00000496133.1:n.-441C>G
ENST00000645020.1:n.1317C>G
ENST00000645285.1:c.-441C>G	ENSP00000495058.1:n.-441C>G
ENST00000645331.1:n.311C>G
ENST00000645620.1:c.-383C>G	ENSP00000493657.1:n.-383C>G
ENST00000646777.1:n.318C>G
ENST00000647016.1:n.622C>G
ENST00000647152.1:c.-441C>G	ENSP00000495893.1:n.-441C>G
ENST00000647209.1:c.*158C>G	ENSP00000495558.1:n.*158C>G
ENST00000647346.1:n.1309C>G
ENST00000299427.10:c.289C>G	ENSP00000299427.6:p.His97Asp
ENST00000428886.6:n.311C>G
ENST00000436873.6:c.289C>G	ENSP00000398136.2:p.His97Asp
ENST00000528571.5:c.*29C>G	ENSP00000434647.1:n.*29C>G
ENST00000530040.1:n.401C>G
ENST00000533371.5:c.-441C>G	ENSP00000437066.1:n.-441C>G
ENST00000534644.5:n.274C>G
ENST00000611494.4:c.289C>G	ENSP00000484546.1:p.His97Asp
NM_000391.3:c.289C>G	NP_000382.3:p.His97Asp
NM_000391.4:c.289C>G MANE Select	NP_000382.3:p.His97Asp