Canonical Allele Identifier: CA472922859

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1126981
• ClinVar RCV Id: RCV001459236
• dbSNP Id: rs1855599396
• gnomAD v3: 11-6617143-C-A
• gnomAD v4: 11-6617143-C-A
• MyVariant Identifiers: chr11:g.6638374C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617143C>A , CM000673.2:g.6617143C>A	GRCh38
NC_000011.9:g.6638374C>A , CM000673.1:g.6638374C>A	GRCh37
NC_000011.8:g.6594950C>A	NCBI36
NG_008653.1:g.7319G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.405G>T	ENSP00000507321.1:p.Leu135=
ENST00000299427.12:c.519G>T MANE Select	ENSP00000299427.6:p.Leu173=
ENST00000428886.7:n.754G>T
ENST00000436873.7:c.312+158G>T
ENST00000524788.2:n.1678G>T
ENST00000524903.2:n.1794G>T
ENST00000528807.2:n.175G>T
ENST00000530040.2:n.479+216G>T
ENST00000533371.6:c.-211G>T	ENSP00000437066.1:n.-211G>T
ENST00000534644.6:n.467G>T
ENST00000642892.1:c.-211G>T	ENSP00000494165.1:n.-211G>T
ENST00000643439.1:c.*259G>T	ENSP00000495849.1:n.*259G>T
ENST00000643479.1:n.548G>T
ENST00000643516.1:c.395+158G>T
ENST00000644151.1:n.1958G>T
ENST00000644218.1:c.519G>T	ENSP00000493574.1:p.Leu173=
ENST00000644683.1:c.461G>T	ENSP00000494085.1:p.Cys154Phe
ENST00000644810.1:c.240G>T	ENSP00000495895.1:p.Leu80=
ENST00000644831.1:n.695G>T
ENST00000644933.1:c.-211G>T	ENSP00000496133.1:n.-211G>T
ENST00000645020.1:n.1694G>T
ENST00000645285.1:c.-211G>T	ENSP00000495058.1:n.-211G>T
ENST00000645331.1:n.885G>T
ENST00000645620.1:c.-211G>T	ENSP00000493657.1:n.-211G>T
ENST00000646777.1:n.695G>T
ENST00000647016.1:n.999G>T
ENST00000647152.1:c.-211G>T	ENSP00000495893.1:n.-211G>T
ENST00000647209.1:c.*388G>T	ENSP00000495558.1:n.*388G>T
ENST00000647346.1:n.1539G>T
ENST00000299427.10:c.519G>T	ENSP00000299427.6:p.Leu173=
ENST00000428886.6:n.688G>T
ENST00000436873.6:c.450+216G>T	ENSP00000398136.2:n.450+216G>T
ENST00000524788.1:n.219G>T
ENST00000528571.5:c.*259G>T	ENSP00000434647.1:n.*259G>T
ENST00000528807.1:n.69G>T
ENST00000533371.5:c.-211G>T	ENSP00000437066.1:n.-211G>T
ENST00000534644.5:n.504G>T
ENST00000611494.4:c.519G>T	ENSP00000484546.1:p.Leu173=
NM_000391.3:c.519G>T	NP_000382.3:p.Leu173=
NM_000391.4:c.519G>T MANE Select	NP_000382.3:p.Leu173=