Canonical Allele Identifier: CA379475837

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638585C>T (hg19) ; chr11:g.6617354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617354C>T , CM000673.2:g.6617354C>T	GRCh38
NC_000011.9:g.6638585C>T , CM000673.1:g.6638585C>T	GRCh37
NC_000011.8:g.6595161C>T	NCBI36
NG_008653.1:g.7108G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.341G>A	ENSP00000507321.1:p.Arg114Lys
ENST00000299427.12:c.455G>A MANE Select	ENSP00000299427.6:p.Arg152Lys
ENST00000428886.7:n.543G>A
ENST00000436873.7:c.259G>A
ENST00000524788.2:n.1467G>A
ENST00000524903.2:n.1583G>A
ENST00000528571.6:c.*195G>A	ENSP00000434647.1:n.*195G>A
ENST00000528807.2:n.111G>A
ENST00000530040.2:n.479+5G>A
ENST00000533371.6:c.-275G>A	ENSP00000437066.1:n.-275G>A
ENST00000534644.6:n.456G>A
ENST00000642892.1:c.-222G>A	ENSP00000494165.1:n.-222G>A
ENST00000643439.1:c.*195G>A	ENSP00000495849.1:n.*195G>A
ENST00000643479.1:n.484G>A
ENST00000643516.1:c.342G>A
ENST00000644151.1:n.1747G>A
ENST00000644218.1:c.455G>A	ENSP00000493574.1:p.Arg152Lys
ENST00000644683.1:c.450+5G>A	ENSP00000494085.1:n.450+5G>A
ENST00000644810.1:c.230-201G>A	ENSP00000495895.1:n.230-201G>A
ENST00000644831.1:n.484G>A
ENST00000644933.1:c.-275G>A	ENSP00000496133.1:n.-275G>A
ENST00000645020.1:n.1483G>A
ENST00000645285.1:c.-275G>A	ENSP00000495058.1:n.-275G>A
ENST00000645331.1:n.674G>A
ENST00000645620.1:c.-222+5G>A	ENSP00000493657.1:n.-222+5G>A
ENST00000646777.1:n.484G>A
ENST00000647016.1:n.788G>A
ENST00000647152.1:c.-275G>A	ENSP00000495893.1:n.-275G>A
ENST00000647209.1:c.*324G>A	ENSP00000495558.1:n.*324G>A
ENST00000647346.1:n.1475G>A
ENST00000299427.10:c.455G>A	ENSP00000299427.6:p.Arg152Lys
ENST00000428886.6:n.477G>A
ENST00000436873.6:c.450+5G>A	ENSP00000398136.2:n.450+5G>A
ENST00000524788.1:n.8G>A
ENST00000528571.5:c.*195G>A	ENSP00000434647.1:n.*195G>A
ENST00000533371.5:c.-275G>A	ENSP00000437066.1:n.-275G>A
ENST00000534644.5:n.440G>A
ENST00000611494.4:c.455G>A	ENSP00000484546.1:p.Arg152Lys
NM_000391.3:c.455G>A	NP_000382.3:p.Arg152Lys
NM_000391.4:c.455G>A MANE Select	NP_000382.3:p.Arg152Lys