Canonical Allele Identifier: CA379472841

Gene: TPP1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1153G>T	ENSP00000507321.1:p.Glu385Ter
ENST00000299427.12:c.1267G>T MANE Select	ENSP00000299427.6:p.Glu423Ter
ENST00000436873.7:c.504G>T
ENST00000524611.2:n.127G>T
ENST00000524924.2:n.387G>T
ENST00000533371.6:c.538G>T	ENSP00000437066.1:p.Glu180Ter
ENST00000642892.1:c.538G>T	ENSP00000494165.1:p.Glu180Ter
ENST00000643342.1:c.340G>T
ENST00000643439.1:c.*1007G>T	ENSP00000495849.1:n.*1007G>T
ENST00000643479.1:n.1453G>T
ENST00000643516.1:c.776G>T
ENST00000644218.1:c.1078G>T	ENSP00000493574.1:p.Glu360Ter
ENST00000644683.1:c.*720G>T	ENSP00000494085.1:n.*720G>T
ENST00000644810.1:c.988G>T	ENSP00000495895.1:p.Glu330Ter
ENST00000644831.1:n.1443G>T
ENST00000644933.1:c.*133G>T	ENSP00000496133.1:n.*133G>T
ENST00000645285.1:c.*133G>T	ENSP00000495058.1:n.*133G>T
ENST00000645331.1:n.2472G>T
ENST00000645620.1:c.538G>T	ENSP00000493657.1:p.Glu180Ter
ENST00000646691.1:n.1154G>T
ENST00000646777.1:n.1600G>T
ENST00000647016.1:n.1747G>T
ENST00000647152.1:c.538G>T	ENSP00000495893.1:p.Glu180Ter
ENST00000647209.1:c.*1136G>T	ENSP00000495558.1:n.*1136G>T
ENST00000647346.1:n.2287G>T
ENST00000299427.10:c.1267G>T	ENSP00000299427.6:p.Glu423Ter
ENST00000524611.1:n.145G>T
ENST00000524924.1:n.222G>T
ENST00000532191.1:n.320G>T
ENST00000533371.5:c.538G>T	ENSP00000437066.1:p.Glu180Ter
ENST00000611494.4:c.1267G>T	ENSP00000484546.1:p.Glu423Ter
NM_000391.3:c.1267G>T	NP_000382.3:p.Glu423Ter
NM_000391.4:c.1267G>T MANE Select	NP_000382.3:p.Glu423Ter