Canonical Allele Identifier: CA379475767

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638568G>T (hg19) ; chr11:g.6617337G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617337G>T , CM000673.2:g.6617337G>T	GRCh38
NC_000011.9:g.6638568G>T , CM000673.1:g.6638568G>T	GRCh37
NC_000011.8:g.6595144G>T	NCBI36
NG_008653.1:g.7125C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.358C>A	ENSP00000507321.1:p.Gln120Lys
ENST00000299427.12:c.472C>A MANE Select	ENSP00000299427.6:p.Gln158Lys
ENST00000428886.7:n.560C>A
ENST00000436873.7:c.276C>A
ENST00000524788.2:n.1484C>A
ENST00000524903.2:n.1600C>A
ENST00000528571.6:c.*212C>A	ENSP00000434647.1:n.*212C>A
ENST00000528807.2:n.128C>A
ENST00000530040.2:n.479+22C>A
ENST00000533371.6:c.-258C>A	ENSP00000437066.1:n.-258C>A
ENST00000534644.6:n.456+17C>A
ENST00000642892.1:c.-222+17C>A	ENSP00000494165.1:n.-222+17C>A
ENST00000643439.1:c.*212C>A	ENSP00000495849.1:n.*212C>A
ENST00000643479.1:n.501C>A
ENST00000643516.1:c.359C>A
ENST00000644151.1:n.1764C>A
ENST00000644218.1:c.472C>A	ENSP00000493574.1:p.Gln158Lys
ENST00000644683.1:c.450+22C>A	ENSP00000494085.1:n.450+22C>A
ENST00000644810.1:c.230-184C>A	ENSP00000495895.1:n.230-184C>A
ENST00000644831.1:n.501C>A
ENST00000644933.1:c.-258C>A	ENSP00000496133.1:n.-258C>A
ENST00000645020.1:n.1500C>A
ENST00000645285.1:c.-258C>A	ENSP00000495058.1:n.-258C>A
ENST00000645331.1:n.691C>A
ENST00000645620.1:c.-222+22C>A	ENSP00000493657.1:n.-222+22C>A
ENST00000646777.1:n.501C>A
ENST00000647016.1:n.805C>A
ENST00000647152.1:c.-258C>A	ENSP00000495893.1:n.-258C>A
ENST00000647209.1:c.*341C>A	ENSP00000495558.1:n.*341C>A
ENST00000647346.1:n.1492C>A
ENST00000299427.10:c.472C>A	ENSP00000299427.6:p.Gln158Lys
ENST00000428886.6:n.494C>A
ENST00000436873.6:c.450+22C>A	ENSP00000398136.2:n.450+22C>A
ENST00000524788.1:n.25C>A
ENST00000528571.5:c.*212C>A	ENSP00000434647.1:n.*212C>A
ENST00000533371.5:c.-258C>A	ENSP00000437066.1:n.-258C>A
ENST00000534644.5:n.457C>A
ENST00000611494.4:c.472C>A	ENSP00000484546.1:p.Gln158Lys
NM_000391.3:c.472C>A	NP_000382.3:p.Gln158Lys
NM_000391.4:c.472C>A MANE Select	NP_000382.3:p.Gln158Lys