Canonical Allele Identifier: CA379475794

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638575A>C (hg19) ; chr11:g.6617344A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617344A>C , CM000673.2:g.6617344A>C	GRCh38
NC_000011.9:g.6638575A>C , CM000673.1:g.6638575A>C	GRCh37
NC_000011.8:g.6595151A>C	NCBI36
NG_008653.1:g.7118T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.351T>G	ENSP00000507321.1:p.His117Gln
ENST00000299427.12:c.465T>G MANE Select	ENSP00000299427.6:p.His155Gln
ENST00000428886.7:n.553T>G
ENST00000436873.7:c.269T>G
ENST00000524788.2:n.1477T>G
ENST00000524903.2:n.1593T>G
ENST00000528571.6:c.*205T>G	ENSP00000434647.1:n.*205T>G
ENST00000528807.2:n.121T>G
ENST00000530040.2:n.479+15T>G
ENST00000533371.6:c.-265T>G	ENSP00000437066.1:n.-265T>G
ENST00000534644.6:n.456+10T>G
ENST00000642892.1:c.-222+10T>G	ENSP00000494165.1:n.-222+10T>G
ENST00000643439.1:c.*205T>G	ENSP00000495849.1:n.*205T>G
ENST00000643479.1:n.494T>G
ENST00000643516.1:c.352T>G
ENST00000644151.1:n.1757T>G
ENST00000644218.1:c.465T>G	ENSP00000493574.1:p.His155Gln
ENST00000644683.1:c.450+15T>G	ENSP00000494085.1:n.450+15T>G
ENST00000644810.1:c.230-191T>G	ENSP00000495895.1:n.230-191T>G
ENST00000644831.1:n.494T>G
ENST00000644933.1:c.-265T>G	ENSP00000496133.1:n.-265T>G
ENST00000645020.1:n.1493T>G
ENST00000645285.1:c.-265T>G	ENSP00000495058.1:n.-265T>G
ENST00000645331.1:n.684T>G
ENST00000645620.1:c.-222+15T>G	ENSP00000493657.1:n.-222+15T>G
ENST00000646777.1:n.494T>G
ENST00000647016.1:n.798T>G
ENST00000647152.1:c.-265T>G	ENSP00000495893.1:n.-265T>G
ENST00000647209.1:c.*334T>G	ENSP00000495558.1:n.*334T>G
ENST00000647346.1:n.1485T>G
ENST00000299427.10:c.465T>G	ENSP00000299427.6:p.His155Gln
ENST00000428886.6:n.487T>G
ENST00000436873.6:c.450+15T>G	ENSP00000398136.2:n.450+15T>G
ENST00000524788.1:n.18T>G
ENST00000528571.5:c.*205T>G	ENSP00000434647.1:n.*205T>G
ENST00000533371.5:c.-265T>G	ENSP00000437066.1:n.-265T>G
ENST00000534644.5:n.450T>G
ENST00000611494.4:c.465T>G	ENSP00000484546.1:p.His155Gln
NM_000391.3:c.465T>G	NP_000382.3:p.His155Gln
NM_000391.4:c.465T>G MANE Select	NP_000382.3:p.His155Gln