Canonical Allele Identifier: CA5858998

Gene: TPP1

Linked Data

• ClinVar Variation Id: 415295
• ClinVar RCV Id: RCV001467938
• dbSNP Id: rs753066277
• ExAC: 11:6638940 C / T
• gnomAD v2: 11-6638940-C-T
• gnomAD v3: 11-6617709-C-T
• gnomAD v4: 11-6617709-C-T
• MyVariant Identifiers: chr11:g.6638940C>T (hg19) ; chr11:g.6617709C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617709C>T , CM000673.2:g.6617709C>T	GRCh38
NC_000011.9:g.6638940C>T , CM000673.1:g.6638940C>T	GRCh37
NC_000011.8:g.6595516C>T	NCBI36
NG_008653.1:g.6753G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.183G>A	ENSP00000507321.1:p.Val61=
ENST00000299427.12:c.297G>A MANE Select	ENSP00000299427.6:p.Val99=
ENST00000428886.7:n.385G>A
ENST00000436873.7:c.101G>A
ENST00000524788.2:n.1309G>A
ENST00000524903.2:n.1425G>A
ENST00000528571.6:c.*37G>A	ENSP00000434647.1:n.*37G>A
ENST00000530040.2:n.326G>A
ENST00000533371.6:c.-433G>A	ENSP00000437066.1:n.-433G>A
ENST00000534644.6:n.298G>A
ENST00000642892.1:c.-380G>A	ENSP00000494165.1:n.-380G>A
ENST00000643439.1:c.*37G>A	ENSP00000495849.1:n.*37G>A
ENST00000643479.1:n.326G>A
ENST00000643516.1:c.184G>A
ENST00000644151.1:n.1589G>A
ENST00000644218.1:c.297G>A	ENSP00000493574.1:p.Val99=
ENST00000644683.1:c.297G>A	ENSP00000494085.1:p.Val99=
ENST00000644810.1:c.230-556G>A	ENSP00000495895.1:n.230-556G>A
ENST00000644831.1:n.326G>A
ENST00000644933.1:c.-433G>A	ENSP00000496133.1:n.-433G>A
ENST00000645020.1:n.1325G>A
ENST00000645285.1:c.-433G>A	ENSP00000495058.1:n.-433G>A
ENST00000645331.1:n.319G>A
ENST00000645620.1:c.-375G>A	ENSP00000493657.1:n.-375G>A
ENST00000646777.1:n.326G>A
ENST00000647016.1:n.630G>A
ENST00000647152.1:c.-433G>A	ENSP00000495893.1:n.-433G>A
ENST00000647209.1:c.*166G>A	ENSP00000495558.1:n.*166G>A
ENST00000647346.1:n.1317G>A
ENST00000299427.10:c.297G>A	ENSP00000299427.6:p.Val99=
ENST00000428886.6:n.319G>A
ENST00000436873.6:c.297G>A	ENSP00000398136.2:p.Val99=
ENST00000528571.5:c.*37G>A	ENSP00000434647.1:n.*37G>A
ENST00000530040.1:n.409G>A
ENST00000533371.5:c.-433G>A	ENSP00000437066.1:n.-433G>A
ENST00000534644.5:n.282G>A
ENST00000611494.4:c.297G>A	ENSP00000484546.1:p.Val99=
NM_000391.3:c.297G>A	NP_000382.3:p.Val99=
NM_000391.4:c.297G>A MANE Select	NP_000382.3:p.Val99=