Canonical Allele Identifier: CA379476404

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638932C>A (hg19) ; chr11:g.6617701C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617701C>A , CM000673.2:g.6617701C>A	GRCh38
NC_000011.9:g.6638932C>A , CM000673.1:g.6638932C>A	GRCh37
NC_000011.8:g.6595508C>A	NCBI36
NG_008653.1:g.6761G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.191G>T	ENSP00000507321.1:p.Trp64Leu
ENST00000299427.12:c.305G>T MANE Select	ENSP00000299427.6:p.Trp102Leu
ENST00000428886.7:n.393G>T
ENST00000436873.7:c.109G>T
ENST00000524788.2:n.1317G>T
ENST00000524903.2:n.1433G>T
ENST00000528571.6:c.*45G>T	ENSP00000434647.1:n.*45G>T
ENST00000530040.2:n.334G>T
ENST00000533371.6:c.-425G>T	ENSP00000437066.1:n.-425G>T
ENST00000534644.6:n.306G>T
ENST00000642892.1:c.-372G>T	ENSP00000494165.1:n.-372G>T
ENST00000643439.1:c.*45G>T	ENSP00000495849.1:n.*45G>T
ENST00000643479.1:n.334G>T
ENST00000643516.1:c.192G>T
ENST00000644151.1:n.1597G>T
ENST00000644218.1:c.305G>T	ENSP00000493574.1:p.Trp102Leu
ENST00000644683.1:c.305G>T	ENSP00000494085.1:p.Trp102Leu
ENST00000644810.1:c.230-548G>T	ENSP00000495895.1:n.230-548G>T
ENST00000644831.1:n.334G>T
ENST00000644933.1:c.-425G>T	ENSP00000496133.1:n.-425G>T
ENST00000645020.1:n.1333G>T
ENST00000645285.1:c.-425G>T	ENSP00000495058.1:n.-425G>T
ENST00000645331.1:n.327G>T
ENST00000645620.1:c.-367G>T	ENSP00000493657.1:n.-367G>T
ENST00000646777.1:n.334G>T
ENST00000647016.1:n.638G>T
ENST00000647152.1:c.-425G>T	ENSP00000495893.1:n.-425G>T
ENST00000647209.1:c.*174G>T	ENSP00000495558.1:n.*174G>T
ENST00000647346.1:n.1325G>T
ENST00000299427.10:c.305G>T	ENSP00000299427.6:p.Trp102Leu
ENST00000428886.6:n.327G>T
ENST00000436873.6:c.305G>T	ENSP00000398136.2:p.Trp102Leu
ENST00000528571.5:c.*45G>T	ENSP00000434647.1:n.*45G>T
ENST00000530040.1:n.417G>T
ENST00000533371.5:c.-425G>T	ENSP00000437066.1:n.-425G>T
ENST00000534644.5:n.290G>T
ENST00000611494.4:c.305G>T	ENSP00000484546.1:p.Trp102Leu
NM_000391.3:c.305G>T	NP_000382.3:p.Trp102Leu
NM_000391.4:c.305G>T MANE Select	NP_000382.3:p.Trp102Leu