Canonical Allele Identifier: CA379472116

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635866C>G (hg19) ; chr11:g.6614635C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614635C>G , CM000673.2:g.6614635C>G	GRCh38
NC_000011.9:g.6635866C>G , CM000673.1:g.6635866C>G	GRCh37
NC_000011.8:g.6592442C>G	NCBI36
NG_008653.1:g.9827G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1489G>C	ENSP00000507321.1:p.Gly497Arg
ENST00000299427.12:c.1603G>C MANE Select	ENSP00000299427.6:p.Gly535Arg
ENST00000524611.2:n.642G>C
ENST00000524924.2:n.723G>C
ENST00000533371.6:c.874G>C	ENSP00000437066.1:p.Gly292Arg
ENST00000642892.1:c.874G>C	ENSP00000494165.1:p.Gly292Arg
ENST00000643342.1:c.676G>C
ENST00000643439.1:c.*1343G>C	ENSP00000495849.1:n.*1343G>C
ENST00000643479.1:n.1789G>C
ENST00000643516.1:c.1112G>C
ENST00000644218.1:c.1414G>C	ENSP00000493574.1:p.Gly472Arg
ENST00000644683.1:c.*1056G>C	ENSP00000494085.1:n.*1056G>C
ENST00000644810.1:c.1324G>C	ENSP00000495895.1:p.Gly442Arg
ENST00000644831.1:n.1779G>C
ENST00000644933.1:c.*469G>C	ENSP00000496133.1:n.*469G>C
ENST00000645285.1:c.*469G>C	ENSP00000495058.1:n.*469G>C
ENST00000645331.1:n.2808G>C
ENST00000645620.1:c.874G>C	ENSP00000493657.1:p.Gly292Arg
ENST00000646691.1:n.1490G>C
ENST00000646777.1:n.1936G>C
ENST00000647016.1:n.2083G>C
ENST00000647152.1:c.874G>C	ENSP00000495893.1:p.Gly292Arg
ENST00000647209.1:c.*1472G>C	ENSP00000495558.1:n.*1472G>C
ENST00000647346.1:n.2623G>C
ENST00000299427.10:c.1603G>C	ENSP00000299427.6:p.Gly535Arg
ENST00000533371.5:c.874G>C	ENSP00000437066.1:p.Gly292Arg
ENST00000611494.4:c.1603G>C	ENSP00000484546.1:p.Gly535Arg
NM_000391.3:c.1603G>C	NP_000382.3:p.Gly535Arg
NM_000391.4:c.1603G>C MANE Select	NP_000382.3:p.Gly535Arg