Canonical Allele Identifier: CA379473059

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636754T>G (hg19) ; chr11:g.6615523T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615523T>G , CM000673.2:g.6615523T>G	GRCh38
NC_000011.9:g.6636754T>G , CM000673.1:g.6636754T>G	GRCh37
NC_000011.8:g.6593330T>G	NCBI36
NG_008653.1:g.8939A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1071A>C	ENSP00000507321.1:p.Glu357Asp
ENST00000299427.12:c.1185A>C MANE Select	ENSP00000299427.6:p.Glu395Asp
ENST00000436873.7:c.422A>C
ENST00000524924.2:n.305A>C
ENST00000533371.6:c.456A>C	ENSP00000437066.1:p.Glu152Asp
ENST00000642892.1:c.456A>C	ENSP00000494165.1:p.Glu152Asp
ENST00000643342.1:c.258A>C
ENST00000643439.1:c.*925A>C	ENSP00000495849.1:n.*925A>C
ENST00000643479.1:n.1371A>C
ENST00000643516.1:c.694A>C
ENST00000644218.1:c.996A>C	ENSP00000493574.1:p.Glu332Asp
ENST00000644683.1:c.*638A>C	ENSP00000494085.1:n.*638A>C
ENST00000644810.1:c.906A>C	ENSP00000495895.1:p.Glu302Asp
ENST00000644831.1:n.1361A>C
ENST00000644933.1:c.*51A>C	ENSP00000496133.1:n.*51A>C
ENST00000645285.1:c.*51A>C	ENSP00000495058.1:n.*51A>C
ENST00000645331.1:n.2390A>C
ENST00000645620.1:c.456A>C	ENSP00000493657.1:p.Glu152Asp
ENST00000646691.1:n.960A>C
ENST00000646777.1:n.1518A>C
ENST00000647016.1:n.1665A>C
ENST00000647152.1:c.456A>C	ENSP00000495893.1:p.Glu152Asp
ENST00000647209.1:c.*1054A>C	ENSP00000495558.1:n.*1054A>C
ENST00000647346.1:n.2205A>C
ENST00000299427.10:c.1185A>C	ENSP00000299427.6:p.Glu395Asp
ENST00000524924.1:n.140A>C
ENST00000532191.1:n.238A>C
ENST00000533371.5:c.456A>C	ENSP00000437066.1:p.Glu152Asp
ENST00000611494.4:c.1185A>C	ENSP00000484546.1:p.Glu395Asp
NM_000391.3:c.1185A>C	NP_000382.3:p.Glu395Asp
NM_000391.4:c.1185A>C MANE Select	NP_000382.3:p.Glu395Asp