Canonical Allele Identifier: CA379476315

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638909T>G (hg19) ; chr11:g.6617678T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617678T>G , CM000673.2:g.6617678T>G	GRCh38
NC_000011.9:g.6638909T>G , CM000673.1:g.6638909T>G	GRCh37
NC_000011.8:g.6595485T>G	NCBI36
NG_008653.1:g.6784A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.214A>C	ENSP00000507321.1:p.Lys72Gln
ENST00000299427.12:c.328A>C MANE Select	ENSP00000299427.6:p.Lys110Gln
ENST00000428886.7:n.416A>C
ENST00000436873.7:c.132A>C
ENST00000524788.2:n.1340A>C
ENST00000524903.2:n.1456A>C
ENST00000528571.6:c.*68A>C	ENSP00000434647.1:n.*68A>C
ENST00000530040.2:n.357A>C
ENST00000533371.6:c.-402A>C	ENSP00000437066.1:n.-402A>C
ENST00000534644.6:n.329A>C
ENST00000642892.1:c.-349A>C	ENSP00000494165.1:n.-349A>C
ENST00000643439.1:c.*68A>C	ENSP00000495849.1:n.*68A>C
ENST00000643479.1:n.357A>C
ENST00000643516.1:c.215A>C
ENST00000644151.1:n.1620A>C
ENST00000644218.1:c.328A>C	ENSP00000493574.1:p.Lys110Gln
ENST00000644683.1:c.328A>C	ENSP00000494085.1:p.Lys110Gln
ENST00000644810.1:c.230-525A>C	ENSP00000495895.1:n.230-525A>C
ENST00000644831.1:n.357A>C
ENST00000644933.1:c.-402A>C	ENSP00000496133.1:n.-402A>C
ENST00000645020.1:n.1356A>C
ENST00000645285.1:c.-402A>C	ENSP00000495058.1:n.-402A>C
ENST00000645331.1:n.350A>C
ENST00000645620.1:c.-344A>C	ENSP00000493657.1:n.-344A>C
ENST00000646777.1:n.357A>C
ENST00000647016.1:n.661A>C
ENST00000647152.1:c.-402A>C	ENSP00000495893.1:n.-402A>C
ENST00000647209.1:c.*197A>C	ENSP00000495558.1:n.*197A>C
ENST00000647346.1:n.1348A>C
ENST00000299427.10:c.328A>C	ENSP00000299427.6:p.Lys110Gln
ENST00000428886.6:n.350A>C
ENST00000436873.6:c.328A>C	ENSP00000398136.2:p.Lys110Gln
ENST00000528571.5:c.*68A>C	ENSP00000434647.1:n.*68A>C
ENST00000530040.1:n.440A>C
ENST00000533371.5:c.-402A>C	ENSP00000437066.1:n.-402A>C
ENST00000534644.5:n.313A>C
ENST00000611494.4:c.328A>C	ENSP00000484546.1:p.Lys110Gln
NM_000391.3:c.328A>C	NP_000382.3:p.Lys110Gln
NM_000391.4:c.328A>C MANE Select	NP_000382.3:p.Lys110Gln