Canonical Allele Identifier: CA472769383

Gene: TPP1

Linked Data

• dbSNP Id: rs2134590432
• MyVariant Identifiers: chr11:g.6635852A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614621A>G , CM000673.2:g.6614621A>G	GRCh38
NC_000011.9:g.6635852A>G , CM000673.1:g.6635852A>G	GRCh37
NC_000011.8:g.6592428A>G	NCBI36
NG_008653.1:g.9841T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1503T>C	ENSP00000507321.1:p.Gly501=
ENST00000299427.12:c.1617T>C MANE Select	ENSP00000299427.6:p.Gly539=
ENST00000524611.2:n.656T>C
ENST00000524924.2:n.737T>C
ENST00000533371.6:c.888T>C	ENSP00000437066.1:p.Gly296=
ENST00000642892.1:c.888T>C	ENSP00000494165.1:p.Gly296=
ENST00000643342.1:c.690T>C
ENST00000643439.1:c.*1357T>C	ENSP00000495849.1:n.*1357T>C
ENST00000643479.1:n.1803T>C
ENST00000643516.1:c.1126T>C
ENST00000644218.1:c.1428T>C	ENSP00000493574.1:p.Gly476=
ENST00000644683.1:c.*1070T>C	ENSP00000494085.1:n.*1070T>C
ENST00000644810.1:c.1338T>C	ENSP00000495895.1:p.Gly446=
ENST00000644831.1:n.1793T>C
ENST00000644933.1:c.*483T>C	ENSP00000496133.1:n.*483T>C
ENST00000645285.1:c.*483T>C	ENSP00000495058.1:n.*483T>C
ENST00000645331.1:n.2822T>C
ENST00000645620.1:c.888T>C	ENSP00000493657.1:p.Gly296=
ENST00000646691.1:n.1504T>C
ENST00000646777.1:n.1950T>C
ENST00000647016.1:n.2097T>C
ENST00000647152.1:c.888T>C	ENSP00000495893.1:p.Gly296=
ENST00000647209.1:c.*1486T>C	ENSP00000495558.1:n.*1486T>C
ENST00000647346.1:n.2637T>C
ENST00000299427.10:c.1617T>C	ENSP00000299427.6:p.Gly539=
ENST00000533371.5:c.888T>C	ENSP00000437066.1:p.Gly296=
ENST00000611494.4:c.1617T>C	ENSP00000484546.1:p.Gly539=
NM_000391.3:c.1617T>C	NP_000382.3:p.Gly539=
NM_000391.4:c.1617T>C MANE Select	NP_000382.3:p.Gly539=