Canonical Allele Identifier: CA10639741

Gene: TPP1

Linked Data

• ClinVar Variation Id: 305488
• ClinVar RCV Id: RCV000308532
• dbSNP Id: rs886048534
• gnomAD v3: 11-6612912-A-G
• gnomAD v4: 11-6612912-A-G
• MyVariant Identifiers: chr11:g.6634143A>G (hg19) ; chr11:g.6612912A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6612912A>G , CM000673.2:g.6612912A>G	GRCh38
NC_000011.9:g.6634143A>G , CM000673.1:g.6634143A>G	GRCh37
NC_000011.8:g.6590719A>G	NCBI36
NG_008653.1:g.11550T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*1634T>C	ENSP00000507321.1:n.*1634T>C
ENST00000299427.12:c.*1634T>C MANE Select	ENSP00000299427.6:n.*1634T>C
ENST00000524611.2:n.2365T>C
ENST00000533371.6:c.*1634T>C	ENSP00000437066.1:n.*1634T>C
ENST00000642892.1:c.*1634T>C	ENSP00000494165.1:n.*1634T>C
ENST00000643439.1:c.*3066T>C	ENSP00000495849.1:n.*3066T>C
ENST00000643479.1:n.3512T>C
ENST00000643516.1:c.2835T>C
ENST00000644218.1:c.*1634T>C	ENSP00000493574.1:n.*1634T>C
ENST00000644683.1:c.*2779T>C	ENSP00000494085.1:n.*2779T>C
ENST00000644810.1:c.*1634T>C	ENSP00000495895.1:n.*1634T>C
ENST00000644831.1:n.3502T>C
ENST00000644933.1:c.*2192T>C	ENSP00000496133.1:n.*2192T>C
ENST00000645285.1:c.*2192T>C	ENSP00000495058.1:n.*2192T>C
ENST00000645331.1:n.4531T>C
ENST00000645620.1:c.*1634T>C	ENSP00000493657.1:n.*1634T>C
ENST00000646691.1:n.3213T>C
ENST00000646777.1:n.3659T>C
ENST00000647152.1:c.*1634T>C	ENSP00000495893.1:n.*1634T>C
ENST00000299427.10:c.*1634T>C	ENSP00000299427.6:n.*1634T>C
ENST00000533371.5:c.*1634T>C	ENSP00000437066.1:n.*1634T>C
NM_000391.3:c.*1634T>C	NP_000382.3:n.*1634T>C
NM_000391.4:c.*1634T>C MANE Select	NP_000382.3:n.*1634T>C