Canonical Allele Identifier: CA379472987

Gene: TPP1

Linked Data

• ClinVar Variation Id: 523039
• ClinVar RCV Id: RCV000626244 ; RCV003884670
• dbSNP Id: rs1471156821
• gnomAD v2: 11-6636734-T-C
• gnomAD v4: 11-6615503-T-C
• MyVariant Identifiers: chr11:g.6636734T>C (hg19) ; chr11:g.6615503T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615503T>C , CM000673.2:g.6615503T>C	GRCh38
NC_000011.9:g.6636734T>C , CM000673.1:g.6636734T>C	GRCh37
NC_000011.8:g.6593310T>C	NCBI36
NG_008653.1:g.8959A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1091A>G	ENSP00000507321.1:p.Glu364Gly
ENST00000299427.12:c.1205A>G MANE Select	ENSP00000299427.6:p.Glu402Gly
ENST00000436873.7:c.442A>G
ENST00000524924.2:n.325A>G
ENST00000533371.6:c.476A>G	ENSP00000437066.1:p.Glu159Gly
ENST00000642892.1:c.476A>G	ENSP00000494165.1:p.Glu159Gly
ENST00000643342.1:c.278A>G
ENST00000643439.1:c.*945A>G	ENSP00000495849.1:n.*945A>G
ENST00000643479.1:n.1391A>G
ENST00000643516.1:c.714A>G
ENST00000644218.1:c.1016A>G	ENSP00000493574.1:p.Glu339Gly
ENST00000644683.1:c.*658A>G	ENSP00000494085.1:n.*658A>G
ENST00000644810.1:c.926A>G	ENSP00000495895.1:p.Glu309Gly
ENST00000644831.1:n.1381A>G
ENST00000644933.1:c.*71A>G	ENSP00000496133.1:n.*71A>G
ENST00000645285.1:c.*71A>G	ENSP00000495058.1:n.*71A>G
ENST00000645331.1:n.2410A>G
ENST00000645620.1:c.476A>G	ENSP00000493657.1:p.Glu159Gly
ENST00000646691.1:n.980A>G
ENST00000646777.1:n.1538A>G
ENST00000647016.1:n.1685A>G
ENST00000647152.1:c.476A>G	ENSP00000495893.1:p.Glu159Gly
ENST00000647209.1:c.*1074A>G	ENSP00000495558.1:n.*1074A>G
ENST00000647346.1:n.2225A>G
ENST00000299427.10:c.1205A>G	ENSP00000299427.6:p.Glu402Gly
ENST00000524924.1:n.160A>G
ENST00000532191.1:n.258A>G
ENST00000533371.5:c.476A>G	ENSP00000437066.1:p.Glu159Gly
ENST00000611494.4:c.1205A>G	ENSP00000484546.1:p.Glu402Gly
NM_000391.3:c.1205A>G	NP_000382.3:p.Glu402Gly
NM_000391.4:c.1205A>G MANE Select	NP_000382.3:p.Glu402Gly