Canonical Allele Identifier: CA379476005

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638631C>G (hg19) ; chr11:g.6617400C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617400C>G , CM000673.2:g.6617400C>G	GRCh38
NC_000011.9:g.6638631C>G , CM000673.1:g.6638631C>G	GRCh37
NC_000011.8:g.6595207C>G	NCBI36
NG_008653.1:g.7062G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.295G>C	ENSP00000507321.1:p.Glu99Gln
ENST00000299427.12:c.409G>C MANE Select	ENSP00000299427.6:p.Glu137Gln
ENST00000428886.7:n.497G>C
ENST00000436873.7:c.213G>C
ENST00000524788.2:n.1421G>C
ENST00000524903.2:n.1537G>C
ENST00000528571.6:c.*149G>C	ENSP00000434647.1:n.*149G>C
ENST00000528807.2:n.65G>C
ENST00000530040.2:n.438G>C
ENST00000533371.6:c.-321G>C	ENSP00000437066.1:n.-321G>C
ENST00000534644.6:n.410G>C
ENST00000642892.1:c.-268G>C	ENSP00000494165.1:n.-268G>C
ENST00000643439.1:c.*149G>C	ENSP00000495849.1:n.*149G>C
ENST00000643479.1:n.438G>C
ENST00000643516.1:c.296G>C
ENST00000644151.1:n.1701G>C
ENST00000644218.1:c.409G>C	ENSP00000493574.1:p.Glu137Gln
ENST00000644683.1:c.409G>C	ENSP00000494085.1:p.Glu137Gln
ENST00000644810.1:c.230-247G>C	ENSP00000495895.1:n.230-247G>C
ENST00000644831.1:n.438G>C
ENST00000644933.1:c.-321G>C	ENSP00000496133.1:n.-321G>C
ENST00000645020.1:n.1437G>C
ENST00000645285.1:c.-321G>C	ENSP00000495058.1:n.-321G>C
ENST00000645331.1:n.628G>C
ENST00000645620.1:c.-263G>C	ENSP00000493657.1:n.-263G>C
ENST00000646777.1:n.438G>C
ENST00000647016.1:n.742G>C
ENST00000647152.1:c.-321G>C	ENSP00000495893.1:n.-321G>C
ENST00000647209.1:c.*278G>C	ENSP00000495558.1:n.*278G>C
ENST00000647346.1:n.1429G>C
ENST00000299427.10:c.409G>C	ENSP00000299427.6:p.Glu137Gln
ENST00000428886.6:n.431G>C
ENST00000436873.6:c.409G>C	ENSP00000398136.2:p.Glu137Gln
ENST00000528571.5:c.*149G>C	ENSP00000434647.1:n.*149G>C
ENST00000530040.1:n.521G>C
ENST00000533371.5:c.-321G>C	ENSP00000437066.1:n.-321G>C
ENST00000534644.5:n.394G>C
ENST00000611494.4:c.409G>C	ENSP00000484546.1:p.Glu137Gln
NM_000391.3:c.409G>C	NP_000382.3:p.Glu137Gln
NM_000391.4:c.409G>C MANE Select	NP_000382.3:p.Glu137Gln