Canonical Allele Identifier: CA379472635

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636463A>C (hg19) ; chr11:g.6615232A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615232A>C , CM000673.2:g.6615232A>C	GRCh38
NC_000011.9:g.6636463A>C , CM000673.1:g.6636463A>C	GRCh37
NC_000011.8:g.6593039A>C	NCBI36
NG_008653.1:g.9230T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1250T>G	ENSP00000507321.1:p.Leu417Arg
ENST00000299427.12:c.1364T>G MANE Select	ENSP00000299427.6:p.Leu455Arg
ENST00000524611.2:n.224T>G
ENST00000524924.2:n.484T>G
ENST00000533371.6:c.635T>G	ENSP00000437066.1:p.Leu212Arg
ENST00000642892.1:c.635T>G	ENSP00000494165.1:p.Leu212Arg
ENST00000643342.1:c.437T>G
ENST00000643439.1:c.*1104T>G	ENSP00000495849.1:n.*1104T>G
ENST00000643479.1:n.1550T>G
ENST00000643516.1:c.873T>G
ENST00000644218.1:c.1175T>G	ENSP00000493574.1:p.Leu392Arg
ENST00000644683.1:c.*817T>G	ENSP00000494085.1:n.*817T>G
ENST00000644810.1:c.1085T>G	ENSP00000495895.1:p.Leu362Arg
ENST00000644831.1:n.1540T>G
ENST00000644933.1:c.*230T>G	ENSP00000496133.1:n.*230T>G
ENST00000645285.1:c.*230T>G	ENSP00000495058.1:n.*230T>G
ENST00000645331.1:n.2569T>G
ENST00000645620.1:c.635T>G	ENSP00000493657.1:p.Leu212Arg
ENST00000646691.1:n.1251T>G
ENST00000646777.1:n.1697T>G
ENST00000647016.1:n.1844T>G
ENST00000647152.1:c.635T>G	ENSP00000495893.1:p.Leu212Arg
ENST00000647209.1:c.*1233T>G	ENSP00000495558.1:n.*1233T>G
ENST00000647346.1:n.2384T>G
ENST00000299427.10:c.1364T>G	ENSP00000299427.6:p.Leu455Arg
ENST00000524611.1:n.242T>G
ENST00000532191.1:n.417T>G
ENST00000533371.5:c.635T>G	ENSP00000437066.1:p.Leu212Arg
ENST00000611494.4:c.1364T>G	ENSP00000484546.1:p.Leu455Arg
NM_000391.3:c.1364T>G	NP_000382.3:p.Leu455Arg
NM_000391.4:c.1364T>G MANE Select	NP_000382.3:p.Leu455Arg