Canonical Allele Identifier: CA379472133

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635874T>C (hg19) ; chr11:g.6614643T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614643T>C , CM000673.2:g.6614643T>C	GRCh38
NC_000011.9:g.6635874T>C , CM000673.1:g.6635874T>C	GRCh37
NC_000011.8:g.6592450T>C	NCBI36
NG_008653.1:g.9819A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1481A>G	ENSP00000507321.1:p.Glu494Gly
ENST00000299427.12:c.1595A>G MANE Select	ENSP00000299427.6:p.Glu532Gly
ENST00000524611.2:n.634A>G
ENST00000524924.2:n.715A>G
ENST00000533371.6:c.866A>G	ENSP00000437066.1:p.Glu289Gly
ENST00000642892.1:c.866A>G	ENSP00000494165.1:p.Glu289Gly
ENST00000643342.1:c.668A>G
ENST00000643439.1:c.*1335A>G	ENSP00000495849.1:n.*1335A>G
ENST00000643479.1:n.1781A>G
ENST00000643516.1:c.1104A>G
ENST00000644218.1:c.1406A>G	ENSP00000493574.1:p.Glu469Gly
ENST00000644683.1:c.*1048A>G	ENSP00000494085.1:n.*1048A>G
ENST00000644810.1:c.1316A>G	ENSP00000495895.1:p.Glu439Gly
ENST00000644831.1:n.1771A>G
ENST00000644933.1:c.*461A>G	ENSP00000496133.1:n.*461A>G
ENST00000645285.1:c.*461A>G	ENSP00000495058.1:n.*461A>G
ENST00000645331.1:n.2800A>G
ENST00000645620.1:c.866A>G	ENSP00000493657.1:p.Glu289Gly
ENST00000646691.1:n.1482A>G
ENST00000646777.1:n.1928A>G
ENST00000647016.1:n.2075A>G
ENST00000647152.1:c.866A>G	ENSP00000495893.1:p.Glu289Gly
ENST00000647209.1:c.*1464A>G	ENSP00000495558.1:n.*1464A>G
ENST00000647346.1:n.2615A>G
ENST00000299427.10:c.1595A>G	ENSP00000299427.6:p.Glu532Gly
ENST00000533371.5:c.866A>G	ENSP00000437066.1:p.Glu289Gly
ENST00000611494.4:c.1595A>G	ENSP00000484546.1:p.Glu532Gly
NM_000391.3:c.1595A>G	NP_000382.3:p.Glu532Gly
NM_000391.4:c.1595A>G MANE Select	NP_000382.3:p.Glu532Gly