Canonical Allele Identifier: CA319186

Gene: TPP1

Linked Data

• ClinVar Variation Id: 207579
• ClinVar RCV Id: RCV000189771 ; RCV000764999 ; RCV001274539 ; RCV002317662
• dbSNP Id: rs140176031
• ExAC: 11:6638002 C / T
• gnomAD v2: 11-6638002-C-T
• gnomAD v3: 11-6616771-C-T
• gnomAD v4: 11-6616771-C-T
• COSMIC: COSM287394
• MyVariant Identifiers: chr11:g.6638002C>T (hg19) ; chr11:g.6616771C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616771C>T , CM000673.2:g.6616771C>T	GRCh38
NC_000011.9:g.6638002C>T , CM000673.1:g.6638002C>T	GRCh37
NC_000011.8:g.6594578C>T	NCBI36
NG_008653.1:g.7691G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.662G>A	ENSP00000507321.1:p.Arg221His
ENST00000299427.12:c.776G>A MANE Select	ENSP00000299427.6:p.Arg259His
ENST00000436873.7:c.312+530G>A
ENST00000524788.2:n.1935G>A
ENST00000524903.2:n.2051G>A
ENST00000528807.2:n.432G>A
ENST00000530040.2:n.480-268G>A
ENST00000533371.6:c.47G>A	ENSP00000437066.1:p.Arg16His
ENST00000642892.1:c.47G>A	ENSP00000494165.1:p.Arg16His
ENST00000643439.1:c.*516G>A	ENSP00000495849.1:n.*516G>A
ENST00000643479.1:n.805G>A
ENST00000643516.1:c.396-268G>A
ENST00000644151.1:n.2215G>A
ENST00000644218.1:c.776G>A	ENSP00000493574.1:p.Arg259His
ENST00000644683.1:c.*229G>A	ENSP00000494085.1:n.*229G>A
ENST00000644810.1:c.497G>A	ENSP00000495895.1:p.Arg166His
ENST00000644831.1:n.952G>A
ENST00000644933.1:c.47G>A	ENSP00000496133.1:p.Arg16His
ENST00000645020.1:n.2066G>A
ENST00000645285.1:c.47G>A	ENSP00000495058.1:p.Arg16His
ENST00000645331.1:n.1142G>A
ENST00000645620.1:c.47G>A	ENSP00000493657.1:p.Arg16His
ENST00000646777.1:n.952G>A
ENST00000647016.1:n.1256G>A
ENST00000647152.1:c.47G>A	ENSP00000495893.1:p.Arg16His
ENST00000647209.1:c.*645G>A	ENSP00000495558.1:n.*645G>A
ENST00000647346.1:n.1796G>A
ENST00000299427.10:c.776G>A	ENSP00000299427.6:p.Arg259His
ENST00000436873.6:c.451-268G>A	ENSP00000398136.2:n.451-268G>A
ENST00000524788.1:n.476G>A
ENST00000528807.1:n.326G>A
ENST00000533371.5:c.47G>A	ENSP00000437066.1:p.Arg16His
ENST00000611494.4:c.776G>A	ENSP00000484546.1:p.Arg259His
NM_000391.3:c.776G>A	NP_000382.3:p.Arg259His
NM_000391.4:c.776G>A MANE Select	NP_000382.3:p.Arg259His