Canonical Allele Identifier: CA319188

Gene: TPP1

Linked Data

• ClinVar Variation Id: 207580
• ClinVar RCV Id: RCV000189772 ; RCV001275122 ; RCV002265676 ; RCV002317663
• dbSNP Id: rs757953998
• ExAC: 11:6637981 C / T
• gnomAD v2: 11-6637981-C-T
• gnomAD v3: 11-6616750-C-T
• gnomAD v4: 11-6616750-C-T
• MyVariant Identifiers: chr11:g.6637981C>T (hg19) ; chr11:g.6616750C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616750C>T , CM000673.2:g.6616750C>T	GRCh38
NC_000011.9:g.6637981C>T , CM000673.1:g.6637981C>T	GRCh37
NC_000011.8:g.6594557C>T	NCBI36
NG_008653.1:g.7712G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.683G>A	ENSP00000507321.1:p.Arg228Gln
ENST00000299427.12:c.797G>A MANE Select	ENSP00000299427.6:p.Arg266Gln
ENST00000436873.7:c.312+551G>A
ENST00000524788.2:n.1956G>A
ENST00000524903.2:n.2072G>A
ENST00000528807.2:n.453G>A
ENST00000530040.2:n.480-247G>A
ENST00000533371.6:c.68G>A	ENSP00000437066.1:p.Arg23Gln
ENST00000642892.1:c.68G>A	ENSP00000494165.1:p.Arg23Gln
ENST00000643439.1:c.*537G>A	ENSP00000495849.1:n.*537G>A
ENST00000643479.1:n.826G>A
ENST00000643516.1:c.396-247G>A
ENST00000644151.1:n.2236G>A
ENST00000644218.1:c.797G>A	ENSP00000493574.1:p.Arg266Gln
ENST00000644683.1:c.*250G>A	ENSP00000494085.1:n.*250G>A
ENST00000644810.1:c.518G>A	ENSP00000495895.1:p.Arg173Gln
ENST00000644831.1:n.973G>A
ENST00000644933.1:c.68G>A	ENSP00000496133.1:p.Arg23Gln
ENST00000645020.1:n.2087G>A
ENST00000645285.1:c.68G>A	ENSP00000495058.1:p.Arg23Gln
ENST00000645331.1:n.1163G>A
ENST00000645620.1:c.68G>A	ENSP00000493657.1:p.Arg23Gln
ENST00000646777.1:n.973G>A
ENST00000647016.1:n.1277G>A
ENST00000647152.1:c.68G>A	ENSP00000495893.1:p.Arg23Gln
ENST00000647209.1:c.*666G>A	ENSP00000495558.1:n.*666G>A
ENST00000647346.1:n.1817G>A
ENST00000299427.10:c.797G>A	ENSP00000299427.6:p.Arg266Gln
ENST00000436873.6:c.451-247G>A	ENSP00000398136.2:n.451-247G>A
ENST00000524788.1:n.497G>A
ENST00000528807.1:n.347G>A
ENST00000533371.5:c.68G>A	ENSP00000437066.1:p.Arg23Gln
ENST00000611494.4:c.797G>A	ENSP00000484546.1:p.Arg266Gln
NM_000391.3:c.797G>A	NP_000382.3:p.Arg266Gln
NM_000391.4:c.797G>A MANE Select	NP_000382.3:p.Arg266Gln