Canonical Allele Identifier: CA472923087

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638647C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617416C>G , CM000673.2:g.6617416C>G	GRCh38
NC_000011.9:g.6638647C>G , CM000673.1:g.6638647C>G	GRCh37
NC_000011.8:g.6595223C>G	NCBI36
NG_008653.1:g.7046G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.279G>C	ENSP00000507321.1:p.Leu93=
ENST00000299427.12:c.393G>C MANE Select	ENSP00000299427.6:p.Leu131=
ENST00000428886.7:n.481G>C
ENST00000436873.7:c.197G>C
ENST00000524788.2:n.1405G>C
ENST00000524903.2:n.1521G>C
ENST00000528571.6:c.*133G>C	ENSP00000434647.1:n.*133G>C
ENST00000528807.2:n.49G>C
ENST00000530040.2:n.422G>C
ENST00000533371.6:c.-337G>C	ENSP00000437066.1:n.-337G>C
ENST00000534644.6:n.394G>C
ENST00000642892.1:c.-284G>C	ENSP00000494165.1:n.-284G>C
ENST00000643439.1:c.*133G>C	ENSP00000495849.1:n.*133G>C
ENST00000643479.1:n.422G>C
ENST00000643516.1:c.280G>C
ENST00000644151.1:n.1685G>C
ENST00000644218.1:c.393G>C	ENSP00000493574.1:p.Leu131=
ENST00000644683.1:c.393G>C	ENSP00000494085.1:p.Leu131=
ENST00000644810.1:c.230-263G>C	ENSP00000495895.1:n.230-263G>C
ENST00000644831.1:n.422G>C
ENST00000644933.1:c.-337G>C	ENSP00000496133.1:n.-337G>C
ENST00000645020.1:n.1421G>C
ENST00000645285.1:c.-337G>C	ENSP00000495058.1:n.-337G>C
ENST00000645331.1:n.612G>C
ENST00000645620.1:c.-279G>C	ENSP00000493657.1:n.-279G>C
ENST00000646777.1:n.422G>C
ENST00000647016.1:n.726G>C
ENST00000647152.1:c.-337G>C	ENSP00000495893.1:n.-337G>C
ENST00000647209.1:c.*262G>C	ENSP00000495558.1:n.*262G>C
ENST00000647346.1:n.1413G>C
ENST00000299427.10:c.393G>C	ENSP00000299427.6:p.Leu131=
ENST00000428886.6:n.415G>C
ENST00000436873.6:c.393G>C	ENSP00000398136.2:p.Leu131=
ENST00000528571.5:c.*133G>C	ENSP00000434647.1:n.*133G>C
ENST00000530040.1:n.505G>C
ENST00000533371.5:c.-337G>C	ENSP00000437066.1:n.-337G>C
ENST00000534644.5:n.378G>C
ENST00000611494.4:c.393G>C	ENSP00000484546.1:p.Leu131=
NM_000391.3:c.393G>C	NP_000382.3:p.Leu131=
NM_000391.4:c.393G>C MANE Select	NP_000382.3:p.Leu131=