Canonical Allele Identifier: CA319141

Gene: TPP1

Linked Data

• ClinVar Variation Id: 207556
• ClinVar RCV Id: RCV000189746
• dbSNP Id: rs796053433
• MyVariant Identifiers: chr11:g.6636434T>C (hg19) ; chr11:g.6615203T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615203T>C , CM000673.2:g.6615203T>C	GRCh38
NC_000011.9:g.6636434T>C , CM000673.1:g.6636434T>C	GRCh37
NC_000011.8:g.6593010T>C	NCBI36
NG_008653.1:g.9259A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1279A>G	ENSP00000507321.1:p.Arg427Gly
ENST00000299427.12:c.1393A>G MANE Select	ENSP00000299427.6:p.Arg465Gly
ENST00000524611.2:n.253A>G
ENST00000524924.2:n.513A>G
ENST00000533371.6:c.664A>G	ENSP00000437066.1:p.Arg222Gly
ENST00000642892.1:c.664A>G	ENSP00000494165.1:p.Arg222Gly
ENST00000643342.1:c.466A>G
ENST00000643439.1:c.*1133A>G	ENSP00000495849.1:n.*1133A>G
ENST00000643479.1:n.1579A>G
ENST00000643516.1:c.902A>G
ENST00000644218.1:c.1204A>G	ENSP00000493574.1:p.Arg402Gly
ENST00000644683.1:c.*846A>G	ENSP00000494085.1:n.*846A>G
ENST00000644810.1:c.1114A>G	ENSP00000495895.1:p.Arg372Gly
ENST00000644831.1:n.1569A>G
ENST00000644933.1:c.*259A>G	ENSP00000496133.1:n.*259A>G
ENST00000645285.1:c.*259A>G	ENSP00000495058.1:n.*259A>G
ENST00000645331.1:n.2598A>G
ENST00000645620.1:c.664A>G	ENSP00000493657.1:p.Arg222Gly
ENST00000646691.1:n.1280A>G
ENST00000646777.1:n.1726A>G
ENST00000647016.1:n.1873A>G
ENST00000647152.1:c.664A>G	ENSP00000495893.1:p.Arg222Gly
ENST00000647209.1:c.*1262A>G	ENSP00000495558.1:n.*1262A>G
ENST00000647346.1:n.2413A>G
ENST00000299427.10:c.1393A>G	ENSP00000299427.6:p.Arg465Gly
ENST00000524611.1:n.271A>G
ENST00000533371.5:c.664A>G	ENSP00000437066.1:p.Arg222Gly
ENST00000611494.4:c.1393A>G	ENSP00000484546.1:p.Arg465Gly
NM_000391.3:c.1393A>G	NP_000382.3:p.Arg465Gly
NM_000391.4:c.1393A>G MANE Select	NP_000382.3:p.Arg465Gly