Canonical Allele Identifier: CA379471920

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1418328
• ClinVar RCV Id: RCV001930912
• dbSNP Id: rs2134590234
• gnomAD v4: 11-6614548-A-G
• MyVariant Identifiers: chr11:g.6635779A>G (hg19) ; chr11:g.6614548A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614548A>G , CM000673.2:g.6614548A>G	GRCh38
NC_000011.9:g.6635779A>G , CM000673.1:g.6635779A>G	GRCh37
NC_000011.8:g.6592355A>G	NCBI36
NG_008653.1:g.9914T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1576T>C	ENSP00000507321.1:p.Ter526Arg
ENST00000299427.12:c.1690T>C MANE Select	ENSP00000299427.6:p.Ter564Arg
ENST00000524611.2:n.729T>C
ENST00000533371.6:c.961T>C	ENSP00000437066.1:p.Ter321Arg
ENST00000642892.1:c.961T>C	ENSP00000494165.1:p.Ter321Arg
ENST00000643342.1:c.763T>C
ENST00000643439.1:c.*1430T>C	ENSP00000495849.1:n.*1430T>C
ENST00000643479.1:n.1876T>C
ENST00000643516.1:c.1199T>C
ENST00000644218.1:c.1501T>C	ENSP00000493574.1:p.Ter501Arg
ENST00000644683.1:c.*1143T>C	ENSP00000494085.1:n.*1143T>C
ENST00000644810.1:c.1411T>C	ENSP00000495895.1:p.Ter471Arg
ENST00000644831.1:n.1866T>C
ENST00000644933.1:c.*556T>C	ENSP00000496133.1:n.*556T>C
ENST00000645285.1:c.*556T>C	ENSP00000495058.1:n.*556T>C
ENST00000645331.1:n.2895T>C
ENST00000645620.1:c.961T>C	ENSP00000493657.1:p.Ter321Arg
ENST00000646691.1:n.1577T>C
ENST00000646777.1:n.2023T>C
ENST00000647016.1:n.2170T>C
ENST00000647152.1:c.961T>C	ENSP00000495893.1:p.Ter321Arg
ENST00000647209.1:c.*1559T>C	ENSP00000495558.1:n.*1559T>C
ENST00000647346.1:n.2710T>C
ENST00000299427.10:c.1690T>C	ENSP00000299427.6:p.Ter564Arg
ENST00000533371.5:c.961T>C	ENSP00000437066.1:p.Ter321Arg
ENST00000611494.4:c.*18T>C	ENSP00000484546.1:n.*18T>C
NM_000391.3:c.1690T>C	NP_000382.3:p.Ter564Arg
NM_000391.4:c.1690T>C MANE Select	NP_000382.3:p.Ter564Arg