Canonical Allele Identifier: CA217320696

Gene: TPP1

Linked Data

• dbSNP Id: rs1032969490
• gnomAD v4: 11-6614487-A-C
• MyVariant Identifiers: chr11:g.6635718A>C (hg19) ; chr11:g.6614487A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614487A>C , CM000673.2:g.6614487A>C	GRCh38
NC_000011.9:g.6635718A>C , CM000673.1:g.6635718A>C	GRCh37
NC_000011.8:g.6592294A>C	NCBI36
NG_008653.1:g.9975T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*59T>G	ENSP00000507321.1:n.*59T>G
ENST00000299427.12:c.*59T>G MANE Select	ENSP00000299427.6:n.*59T>G
ENST00000524611.2:n.790T>G
ENST00000533371.6:c.*59T>G	ENSP00000437066.1:n.*59T>G
ENST00000642892.1:c.*59T>G	ENSP00000494165.1:n.*59T>G
ENST00000643342.1:c.824T>G
ENST00000643439.1:c.*1491T>G	ENSP00000495849.1:n.*1491T>G
ENST00000643479.1:n.1937T>G
ENST00000643516.1:c.1260T>G
ENST00000644218.1:c.*59T>G	ENSP00000493574.1:n.*59T>G
ENST00000644683.1:c.*1204T>G	ENSP00000494085.1:n.*1204T>G
ENST00000644810.1:c.*59T>G	ENSP00000495895.1:n.*59T>G
ENST00000644831.1:n.1927T>G
ENST00000644933.1:c.*617T>G	ENSP00000496133.1:n.*617T>G
ENST00000645285.1:c.*617T>G	ENSP00000495058.1:n.*617T>G
ENST00000645331.1:n.2956T>G
ENST00000645620.1:c.*59T>G	ENSP00000493657.1:n.*59T>G
ENST00000646691.1:n.1638T>G
ENST00000646777.1:n.2084T>G
ENST00000647016.1:n.2231T>G
ENST00000647152.1:c.*59T>G	ENSP00000495893.1:n.*59T>G
ENST00000647209.1:c.*1620T>G	ENSP00000495558.1:n.*1620T>G
ENST00000647346.1:n.2771T>G
ENST00000299427.10:c.*59T>G	ENSP00000299427.6:n.*59T>G
ENST00000533371.5:c.*59T>G	ENSP00000437066.1:n.*59T>G
ENST00000611494.4:c.*79T>G	ENSP00000484546.1:n.*79T>G
NM_000391.3:c.*59T>G	NP_000382.3:n.*59T>G
NM_000391.4:c.*59T>G MANE Select	NP_000382.3:n.*59T>G