Canonical Allele Identifier: CA379471943

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635791G>C (hg19) ; chr11:g.6614560G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614560G>C , CM000673.2:g.6614560G>C	GRCh38
NC_000011.9:g.6635791G>C , CM000673.1:g.6635791G>C	GRCh37
NC_000011.8:g.6592367G>C	NCBI36
NG_008653.1:g.9902C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1564C>G	ENSP00000507321.1:p.Leu522Val
ENST00000299427.12:c.1678C>G MANE Select	ENSP00000299427.6:p.Leu560Val
ENST00000524611.2:n.717C>G
ENST00000533371.6:c.949C>G	ENSP00000437066.1:p.Leu317Val
ENST00000642892.1:c.949C>G	ENSP00000494165.1:p.Leu317Val
ENST00000643342.1:c.751C>G
ENST00000643439.1:c.*1418C>G	ENSP00000495849.1:n.*1418C>G
ENST00000643479.1:n.1864C>G
ENST00000643516.1:c.1187C>G
ENST00000644218.1:c.1489C>G	ENSP00000493574.1:p.Leu497Val
ENST00000644683.1:c.*1131C>G	ENSP00000494085.1:n.*1131C>G
ENST00000644810.1:c.1399C>G	ENSP00000495895.1:p.Leu467Val
ENST00000644831.1:n.1854C>G
ENST00000644933.1:c.*544C>G	ENSP00000496133.1:n.*544C>G
ENST00000645285.1:c.*544C>G	ENSP00000495058.1:n.*544C>G
ENST00000645331.1:n.2883C>G
ENST00000645620.1:c.949C>G	ENSP00000493657.1:p.Leu317Val
ENST00000646691.1:n.1565C>G
ENST00000646777.1:n.2011C>G
ENST00000647016.1:n.2158C>G
ENST00000647152.1:c.949C>G	ENSP00000495893.1:p.Leu317Val
ENST00000647209.1:c.*1547C>G	ENSP00000495558.1:n.*1547C>G
ENST00000647346.1:n.2698C>G
ENST00000299427.10:c.1678C>G	ENSP00000299427.6:p.Leu560Val
ENST00000533371.5:c.949C>G	ENSP00000437066.1:p.Leu317Val
ENST00000611494.4:c.*6C>G	ENSP00000484546.1:n.*6C>G
NM_000391.3:c.1678C>G	NP_000382.3:p.Leu560Val
NM_000391.4:c.1678C>G MANE Select	NP_000382.3:p.Leu560Val