Canonical Allele Identifier: CA379473030

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636747G>C (hg19) ; chr11:g.6615516G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615516G>C , CM000673.2:g.6615516G>C	GRCh38
NC_000011.9:g.6636747G>C , CM000673.1:g.6636747G>C	GRCh37
NC_000011.8:g.6593323G>C	NCBI36
NG_008653.1:g.8946C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1078C>G	ENSP00000507321.1:p.Leu360Val
ENST00000299427.12:c.1192C>G MANE Select	ENSP00000299427.6:p.Leu398Val
ENST00000436873.7:c.429C>G
ENST00000524924.2:n.312C>G
ENST00000533371.6:c.463C>G	ENSP00000437066.1:p.Leu155Val
ENST00000642892.1:c.463C>G	ENSP00000494165.1:p.Leu155Val
ENST00000643342.1:c.265C>G
ENST00000643439.1:c.*932C>G	ENSP00000495849.1:n.*932C>G
ENST00000643479.1:n.1378C>G
ENST00000643516.1:c.701C>G
ENST00000644218.1:c.1003C>G	ENSP00000493574.1:p.Leu335Val
ENST00000644683.1:c.*645C>G	ENSP00000494085.1:n.*645C>G
ENST00000644810.1:c.913C>G	ENSP00000495895.1:p.Leu305Val
ENST00000644831.1:n.1368C>G
ENST00000644933.1:c.*58C>G	ENSP00000496133.1:n.*58C>G
ENST00000645285.1:c.*58C>G	ENSP00000495058.1:n.*58C>G
ENST00000645331.1:n.2397C>G
ENST00000645620.1:c.463C>G	ENSP00000493657.1:p.Leu155Val
ENST00000646691.1:n.967C>G
ENST00000646777.1:n.1525C>G
ENST00000647016.1:n.1672C>G
ENST00000647152.1:c.463C>G	ENSP00000495893.1:p.Leu155Val
ENST00000647209.1:c.*1061C>G	ENSP00000495558.1:n.*1061C>G
ENST00000647346.1:n.2212C>G
ENST00000299427.10:c.1192C>G	ENSP00000299427.6:p.Leu398Val
ENST00000524924.1:n.147C>G
ENST00000532191.1:n.245C>G
ENST00000533371.5:c.463C>G	ENSP00000437066.1:p.Leu155Val
ENST00000611494.4:c.1192C>G	ENSP00000484546.1:p.Leu398Val
NM_000391.3:c.1192C>G	NP_000382.3:p.Leu398Val
NM_000391.4:c.1192C>G MANE Select	NP_000382.3:p.Leu398Val