Canonical Allele Identifier: CA10639752

Gene: TPP1

Linked Data

• ClinVar Variation Id: 305498
• ClinVar RCV Id: RCV000375789
• dbSNP Id: rs886048538
• MyVariant Identifiers: chr11:g.6634777A>G (hg19) ; chr11:g.6613546A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6613546A>G , CM000673.2:g.6613546A>G	GRCh38
NC_000011.9:g.6634777A>G , CM000673.1:g.6634777A>G	GRCh37
NC_000011.8:g.6591353A>G	NCBI36
NG_008653.1:g.10916T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*1000T>C	ENSP00000507321.1:n.*1000T>C
ENST00000299427.12:c.*1000T>C MANE Select	ENSP00000299427.6:n.*1000T>C
ENST00000524611.2:n.1731T>C
ENST00000533371.6:c.*1000T>C	ENSP00000437066.1:n.*1000T>C
ENST00000642892.1:c.*1000T>C	ENSP00000494165.1:n.*1000T>C
ENST00000643342.1:c.1765T>C
ENST00000643439.1:c.*2432T>C	ENSP00000495849.1:n.*2432T>C
ENST00000643479.1:n.2878T>C
ENST00000643516.1:c.2201T>C
ENST00000644218.1:c.*1000T>C	ENSP00000493574.1:n.*1000T>C
ENST00000644683.1:c.*2145T>C	ENSP00000494085.1:n.*2145T>C
ENST00000644810.1:c.*1000T>C	ENSP00000495895.1:n.*1000T>C
ENST00000644831.1:n.2868T>C
ENST00000644933.1:c.*1558T>C	ENSP00000496133.1:n.*1558T>C
ENST00000645285.1:c.*1558T>C	ENSP00000495058.1:n.*1558T>C
ENST00000645331.1:n.3897T>C
ENST00000645620.1:c.*1000T>C	ENSP00000493657.1:n.*1000T>C
ENST00000646691.1:n.2579T>C
ENST00000646777.1:n.3025T>C
ENST00000647016.1:n.3172T>C
ENST00000647152.1:c.*1000T>C	ENSP00000495893.1:n.*1000T>C
ENST00000647209.1:c.*2561T>C	ENSP00000495558.1:n.*2561T>C
ENST00000647346.1:n.3712T>C
ENST00000299427.10:c.*1000T>C	ENSP00000299427.6:n.*1000T>C
ENST00000533371.5:c.*1000T>C	ENSP00000437066.1:n.*1000T>C
NM_000391.3:c.*1000T>C	NP_000382.3:n.*1000T>C
NM_000391.4:c.*1000T>C MANE Select	NP_000382.3:n.*1000T>C