Canonical Allele Identifier: CA379472124

Gene: TPP1

Linked Data

• dbSNP Id: rs1446194759
• MyVariant Identifiers: chr11:g.6635871C>A (hg19) ; chr11:g.6614640C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614640C>A , CM000673.2:g.6614640C>A	GRCh38
NC_000011.9:g.6635871C>A , CM000673.1:g.6635871C>A	GRCh37
NC_000011.8:g.6592447C>A	NCBI36
NG_008653.1:g.9822G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1484G>T	ENSP00000507321.1:p.Gly495Val
ENST00000299427.12:c.1598G>T MANE Select	ENSP00000299427.6:p.Gly533Val
ENST00000524611.2:n.637G>T
ENST00000524924.2:n.718G>T
ENST00000533371.6:c.869G>T	ENSP00000437066.1:p.Gly290Val
ENST00000642892.1:c.869G>T	ENSP00000494165.1:p.Gly290Val
ENST00000643342.1:c.671G>T
ENST00000643439.1:c.*1338G>T	ENSP00000495849.1:n.*1338G>T
ENST00000643479.1:n.1784G>T
ENST00000643516.1:c.1107G>T
ENST00000644218.1:c.1409G>T	ENSP00000493574.1:p.Gly470Val
ENST00000644683.1:c.*1051G>T	ENSP00000494085.1:n.*1051G>T
ENST00000644810.1:c.1319G>T	ENSP00000495895.1:p.Gly440Val
ENST00000644831.1:n.1774G>T
ENST00000644933.1:c.*464G>T	ENSP00000496133.1:n.*464G>T
ENST00000645285.1:c.*464G>T	ENSP00000495058.1:n.*464G>T
ENST00000645331.1:n.2803G>T
ENST00000645620.1:c.869G>T	ENSP00000493657.1:p.Gly290Val
ENST00000646691.1:n.1485G>T
ENST00000646777.1:n.1931G>T
ENST00000647016.1:n.2078G>T
ENST00000647152.1:c.869G>T	ENSP00000495893.1:p.Gly290Val
ENST00000647209.1:c.*1467G>T	ENSP00000495558.1:n.*1467G>T
ENST00000647346.1:n.2618G>T
ENST00000299427.10:c.1598G>T	ENSP00000299427.6:p.Gly533Val
ENST00000533371.5:c.869G>T	ENSP00000437066.1:p.Gly290Val
ENST00000611494.4:c.1598G>T	ENSP00000484546.1:p.Gly533Val
NM_000391.3:c.1598G>T	NP_000382.3:p.Gly533Val
NM_000391.4:c.1598G>T MANE Select	NP_000382.3:p.Gly533Val