Canonical Allele Identifier: CA472768943

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635786G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614555G>C , CM000673.2:g.6614555G>C	GRCh38
NC_000011.9:g.6635786G>C , CM000673.1:g.6635786G>C	GRCh37
NC_000011.8:g.6592362G>C	NCBI36
NG_008653.1:g.9907C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1569C>G	ENSP00000507321.1:p.Leu523=
ENST00000299427.12:c.1683C>G MANE Select	ENSP00000299427.6:p.Leu561=
ENST00000524611.2:n.722C>G
ENST00000533371.6:c.954C>G	ENSP00000437066.1:p.Leu318=
ENST00000642892.1:c.954C>G	ENSP00000494165.1:p.Leu318=
ENST00000643342.1:c.756C>G
ENST00000643439.1:c.*1423C>G	ENSP00000495849.1:n.*1423C>G
ENST00000643479.1:n.1869C>G
ENST00000643516.1:c.1192C>G
ENST00000644218.1:c.1494C>G	ENSP00000493574.1:p.Leu498=
ENST00000644683.1:c.*1136C>G	ENSP00000494085.1:n.*1136C>G
ENST00000644810.1:c.1404C>G	ENSP00000495895.1:p.Leu468=
ENST00000644831.1:n.1859C>G
ENST00000644933.1:c.*549C>G	ENSP00000496133.1:n.*549C>G
ENST00000645285.1:c.*549C>G	ENSP00000495058.1:n.*549C>G
ENST00000645331.1:n.2888C>G
ENST00000645620.1:c.954C>G	ENSP00000493657.1:p.Leu318=
ENST00000646691.1:n.1570C>G
ENST00000646777.1:n.2016C>G
ENST00000647016.1:n.2163C>G
ENST00000647152.1:c.954C>G	ENSP00000495893.1:p.Leu318=
ENST00000647209.1:c.*1552C>G	ENSP00000495558.1:n.*1552C>G
ENST00000647346.1:n.2703C>G
ENST00000299427.10:c.1683C>G	ENSP00000299427.6:p.Leu561=
ENST00000533371.5:c.954C>G	ENSP00000437066.1:p.Leu318=
ENST00000611494.4:c.*11C>G	ENSP00000484546.1:n.*11C>G
NM_000391.3:c.1683C>G	NP_000382.3:p.Leu561=
NM_000391.4:c.1683C>G MANE Select	NP_000382.3:p.Leu561=