Canonical Allele Identifier: CA10631269

Gene: TPP1

Linked Data

• ClinVar Variation Id: 305494
• ClinVar RCV Id: RCV000324411
• dbSNP Id: rs886048536
• MyVariant Identifiers: chr11:g.6634466G>A (hg19) ; chr11:g.6613235G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6613235G>A , CM000673.2:g.6613235G>A	GRCh38
NC_000011.9:g.6634466G>A , CM000673.1:g.6634466G>A	GRCh37
NC_000011.8:g.6591042G>A	NCBI36
NG_008653.1:g.11227C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*1311C>T	ENSP00000507321.1:n.*1311C>T
ENST00000299427.12:c.*1311C>T MANE Select	ENSP00000299427.6:n.*1311C>T
ENST00000524611.2:n.2042C>T
ENST00000533371.6:c.*1311C>T	ENSP00000437066.1:n.*1311C>T
ENST00000642892.1:c.*1311C>T	ENSP00000494165.1:n.*1311C>T
ENST00000643439.1:c.*2743C>T	ENSP00000495849.1:n.*2743C>T
ENST00000643479.1:n.3189C>T
ENST00000643516.1:c.2512C>T
ENST00000644218.1:c.*1311C>T	ENSP00000493574.1:n.*1311C>T
ENST00000644683.1:c.*2456C>T	ENSP00000494085.1:n.*2456C>T
ENST00000644810.1:c.*1311C>T	ENSP00000495895.1:n.*1311C>T
ENST00000644831.1:n.3179C>T
ENST00000644933.1:c.*1869C>T	ENSP00000496133.1:n.*1869C>T
ENST00000645285.1:c.*1869C>T	ENSP00000495058.1:n.*1869C>T
ENST00000645331.1:n.4208C>T
ENST00000645620.1:c.*1311C>T	ENSP00000493657.1:n.*1311C>T
ENST00000646691.1:n.2890C>T
ENST00000646777.1:n.3336C>T
ENST00000647016.1:n.3483C>T
ENST00000647152.1:c.*1311C>T	ENSP00000495893.1:n.*1311C>T
ENST00000647209.1:c.*2872C>T	ENSP00000495558.1:n.*2872C>T
ENST00000647346.1:n.4023C>T
ENST00000299427.10:c.*1311C>T	ENSP00000299427.6:n.*1311C>T
ENST00000533371.5:c.*1311C>T	ENSP00000437066.1:n.*1311C>T
NM_000391.3:c.*1311C>T	NP_000382.3:n.*1311C>T
NM_000391.4:c.*1311C>T MANE Select	NP_000382.3:n.*1311C>T