Canonical Allele Identifier: CA379471998

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635813G>C (hg19) ; chr11:g.6614582G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614582G>C , CM000673.2:g.6614582G>C	GRCh38
NC_000011.9:g.6635813G>C , CM000673.1:g.6635813G>C	GRCh37
NC_000011.8:g.6592389G>C	NCBI36
NG_008653.1:g.9880C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1542C>G	ENSP00000507321.1:p.Asn514Lys
ENST00000299427.12:c.1656C>G MANE Select	ENSP00000299427.6:p.Asn552Lys
ENST00000524611.2:n.695C>G
ENST00000533371.6:c.927C>G	ENSP00000437066.1:p.Asn309Lys
ENST00000642892.1:c.927C>G	ENSP00000494165.1:p.Asn309Lys
ENST00000643342.1:c.729C>G
ENST00000643439.1:c.*1396C>G	ENSP00000495849.1:n.*1396C>G
ENST00000643479.1:n.1842C>G
ENST00000643516.1:c.1165C>G
ENST00000644218.1:c.1467C>G	ENSP00000493574.1:p.Asn489Lys
ENST00000644683.1:c.*1109C>G	ENSP00000494085.1:n.*1109C>G
ENST00000644810.1:c.1377C>G	ENSP00000495895.1:p.Asn459Lys
ENST00000644831.1:n.1832C>G
ENST00000644933.1:c.*522C>G	ENSP00000496133.1:n.*522C>G
ENST00000645285.1:c.*522C>G	ENSP00000495058.1:n.*522C>G
ENST00000645331.1:n.2861C>G
ENST00000645620.1:c.927C>G	ENSP00000493657.1:p.Asn309Lys
ENST00000646691.1:n.1543C>G
ENST00000646777.1:n.1989C>G
ENST00000647016.1:n.2136C>G
ENST00000647152.1:c.927C>G	ENSP00000495893.1:p.Asn309Lys
ENST00000647209.1:c.*1525C>G	ENSP00000495558.1:n.*1525C>G
ENST00000647346.1:n.2676C>G
ENST00000299427.10:c.1656C>G	ENSP00000299427.6:p.Asn552Lys
ENST00000533371.5:c.927C>G	ENSP00000437066.1:p.Asn309Lys
ENST00000611494.4:c.1655C>G	ENSP00000484546.1:p.Thr552Ser
NM_000391.3:c.1656C>G	NP_000382.3:p.Asn552Lys
NM_000391.4:c.1656C>G MANE Select	NP_000382.3:p.Asn552Lys