Canonical Allele Identifier: CA472771474

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1110272
• ClinVar RCV Id: RCV001436459
• dbSNP Id: rs1201568521
• gnomAD v2: 11-6636685-C-T
• gnomAD v3: 11-6615454-C-T
• gnomAD v4: 11-6615454-C-T
• MyVariant Identifiers: chr11:g.6636685C>T (hg19) ; chr11:g.6615454C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615454C>T , CM000673.2:g.6615454C>T	GRCh38
NC_000011.9:g.6636685C>T , CM000673.1:g.6636685C>T	GRCh37
NC_000011.8:g.6593261C>T	NCBI36
NG_008653.1:g.9008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1140G>A	ENSP00000507321.1:p.Arg380=
ENST00000299427.12:c.1254G>A MANE Select	ENSP00000299427.6:p.Arg418=
ENST00000436873.7:c.491G>A
ENST00000524611.2:n.2G>A
ENST00000524924.2:n.374G>A
ENST00000533371.6:c.525G>A	ENSP00000437066.1:p.Arg175=
ENST00000642892.1:c.525G>A	ENSP00000494165.1:p.Arg175=
ENST00000643342.1:c.327G>A
ENST00000643439.1:c.*994G>A	ENSP00000495849.1:n.*994G>A
ENST00000643479.1:n.1440G>A
ENST00000643516.1:c.763G>A
ENST00000644218.1:c.1065G>A	ENSP00000493574.1:p.Arg355=
ENST00000644683.1:c.*707G>A	ENSP00000494085.1:n.*707G>A
ENST00000644810.1:c.975G>A	ENSP00000495895.1:p.Arg325=
ENST00000644831.1:n.1430G>A
ENST00000644933.1:c.*120G>A	ENSP00000496133.1:n.*120G>A
ENST00000645285.1:c.*120G>A	ENSP00000495058.1:n.*120G>A
ENST00000645331.1:n.2459G>A
ENST00000645620.1:c.525G>A	ENSP00000493657.1:p.Arg175=
ENST00000646691.1:n.1029G>A
ENST00000646777.1:n.1587G>A
ENST00000647016.1:n.1734G>A
ENST00000647152.1:c.525G>A	ENSP00000495893.1:p.Arg175=
ENST00000647209.1:c.*1123G>A	ENSP00000495558.1:n.*1123G>A
ENST00000647346.1:n.2274G>A
ENST00000299427.10:c.1254G>A	ENSP00000299427.6:p.Arg418=
ENST00000524611.1:n.20G>A
ENST00000524924.1:n.209G>A
ENST00000532191.1:n.307G>A
ENST00000533371.5:c.525G>A	ENSP00000437066.1:p.Arg175=
ENST00000611494.4:c.1254G>A	ENSP00000484546.1:p.Arg418=
NM_000391.3:c.1254G>A	NP_000382.3:p.Arg418=
NM_000391.4:c.1254G>A MANE Select	NP_000382.3:p.Arg418=