Canonical Allele Identifier: CA379472842

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636560C>G (hg19) ; chr11:g.6615329C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615329C>G , CM000673.2:g.6615329C>G	GRCh38
NC_000011.9:g.6636560C>G , CM000673.1:g.6636560C>G	GRCh37
NC_000011.8:g.6593136C>G	NCBI36
NG_008653.1:g.9133G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1153G>C	ENSP00000507321.1:p.Glu385Gln
ENST00000299427.12:c.1267G>C MANE Select	ENSP00000299427.6:p.Glu423Gln
ENST00000436873.7:c.504G>C
ENST00000524611.2:n.127G>C
ENST00000524924.2:n.387G>C
ENST00000533371.6:c.538G>C	ENSP00000437066.1:p.Glu180Gln
ENST00000642892.1:c.538G>C	ENSP00000494165.1:p.Glu180Gln
ENST00000643342.1:c.340G>C
ENST00000643439.1:c.*1007G>C	ENSP00000495849.1:n.*1007G>C
ENST00000643479.1:n.1453G>C
ENST00000643516.1:c.776G>C
ENST00000644218.1:c.1078G>C	ENSP00000493574.1:p.Glu360Gln
ENST00000644683.1:c.*720G>C	ENSP00000494085.1:n.*720G>C
ENST00000644810.1:c.988G>C	ENSP00000495895.1:p.Glu330Gln
ENST00000644831.1:n.1443G>C
ENST00000644933.1:c.*133G>C	ENSP00000496133.1:n.*133G>C
ENST00000645285.1:c.*133G>C	ENSP00000495058.1:n.*133G>C
ENST00000645331.1:n.2472G>C
ENST00000645620.1:c.538G>C	ENSP00000493657.1:p.Glu180Gln
ENST00000646691.1:n.1154G>C
ENST00000646777.1:n.1600G>C
ENST00000647016.1:n.1747G>C
ENST00000647152.1:c.538G>C	ENSP00000495893.1:p.Glu180Gln
ENST00000647209.1:c.*1136G>C	ENSP00000495558.1:n.*1136G>C
ENST00000647346.1:n.2287G>C
ENST00000299427.10:c.1267G>C	ENSP00000299427.6:p.Glu423Gln
ENST00000524611.1:n.145G>C
ENST00000524924.1:n.222G>C
ENST00000532191.1:n.320G>C
ENST00000533371.5:c.538G>C	ENSP00000437066.1:p.Glu180Gln
ENST00000611494.4:c.1267G>C	ENSP00000484546.1:p.Glu423Gln
NM_000391.3:c.1267G>C	NP_000382.3:p.Glu423Gln
NM_000391.4:c.1267G>C MANE Select	NP_000382.3:p.Glu423Gln