Canonical Allele Identifier: CA266183

Gene: TPP1

Linked Data

• ClinVar Variation Id: 68740
• ClinVar RCV Id: RCV000059622 ; RCV001854252
• dbSNP Id: rs121908203
• ExAC: 11:6636410 C / T
• gnomAD v2: 11-6636410-C-T
• gnomAD v3: 11-6615179-C-T
• gnomAD v4: 11-6615179-C-T
• MyVariant Identifiers: chr11:g.6636410C>T (hg19) ; chr11:g.6615179C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615179C>T , CM000673.2:g.6615179C>T	GRCh38
NC_000011.9:g.6636410C>T , CM000673.1:g.6636410C>T	GRCh37
NC_000011.8:g.6592986C>T	NCBI36
NG_008653.1:g.9283G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1303G>A	ENSP00000507321.1:p.Gly435Arg
ENST00000299427.12:c.1417G>A MANE Select	ENSP00000299427.6:p.Gly473Arg
ENST00000524611.2:n.277G>A
ENST00000524924.2:n.537G>A
ENST00000533371.6:c.688G>A	ENSP00000437066.1:p.Gly230Arg
ENST00000642892.1:c.688G>A	ENSP00000494165.1:p.Gly230Arg
ENST00000643342.1:c.490G>A
ENST00000643439.1:c.*1157G>A	ENSP00000495849.1:n.*1157G>A
ENST00000643479.1:n.1603G>A
ENST00000643516.1:c.926G>A
ENST00000644218.1:c.1228G>A	ENSP00000493574.1:p.Gly410Arg
ENST00000644683.1:c.*870G>A	ENSP00000494085.1:n.*870G>A
ENST00000644810.1:c.1138G>A	ENSP00000495895.1:p.Gly380Arg
ENST00000644831.1:n.1593G>A
ENST00000644933.1:c.*283G>A	ENSP00000496133.1:n.*283G>A
ENST00000645285.1:c.*283G>A	ENSP00000495058.1:n.*283G>A
ENST00000645331.1:n.2622G>A
ENST00000645620.1:c.688G>A	ENSP00000493657.1:p.Gly230Arg
ENST00000646691.1:n.1304G>A
ENST00000646777.1:n.1750G>A
ENST00000647016.1:n.1897G>A
ENST00000647152.1:c.688G>A	ENSP00000495893.1:p.Gly230Arg
ENST00000647209.1:c.*1286G>A	ENSP00000495558.1:n.*1286G>A
ENST00000647346.1:n.2437G>A
ENST00000299427.10:c.1417G>A	ENSP00000299427.6:p.Gly473Arg
ENST00000524611.1:n.295G>A
ENST00000533371.5:c.688G>A	ENSP00000437066.1:p.Gly230Arg
ENST00000611494.4:c.1417G>A	ENSP00000484546.1:p.Gly473Arg
NM_000391.3:c.1417G>A	NP_000382.3:p.Gly473Arg
NM_000391.4:c.1417G>A MANE Select	NP_000382.3:p.Gly473Arg