Canonical Allele Identifier: CA379472830

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636556T>A (hg19) ; chr11:g.6615325T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615325T>A , CM000673.2:g.6615325T>A	GRCh38
NC_000011.9:g.6636556T>A , CM000673.1:g.6636556T>A	GRCh37
NC_000011.8:g.6593132T>A	NCBI36
NG_008653.1:g.9137A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1157A>T	ENSP00000507321.1:p.Glu386Val
ENST00000299427.12:c.1271A>T MANE Select	ENSP00000299427.6:p.Glu424Val
ENST00000436873.7:c.508A>T
ENST00000524611.2:n.131A>T
ENST00000524924.2:n.391A>T
ENST00000533371.6:c.542A>T	ENSP00000437066.1:p.Glu181Val
ENST00000642892.1:c.542A>T	ENSP00000494165.1:p.Glu181Val
ENST00000643342.1:c.344A>T
ENST00000643439.1:c.*1011A>T	ENSP00000495849.1:n.*1011A>T
ENST00000643479.1:n.1457A>T
ENST00000643516.1:c.780A>T
ENST00000644218.1:c.1082A>T	ENSP00000493574.1:p.Glu361Val
ENST00000644683.1:c.*724A>T	ENSP00000494085.1:n.*724A>T
ENST00000644810.1:c.992A>T	ENSP00000495895.1:p.Glu331Val
ENST00000644831.1:n.1447A>T
ENST00000644933.1:c.*137A>T	ENSP00000496133.1:n.*137A>T
ENST00000645285.1:c.*137A>T	ENSP00000495058.1:n.*137A>T
ENST00000645331.1:n.2476A>T
ENST00000645620.1:c.542A>T	ENSP00000493657.1:p.Glu181Val
ENST00000646691.1:n.1158A>T
ENST00000646777.1:n.1604A>T
ENST00000647016.1:n.1751A>T
ENST00000647152.1:c.542A>T	ENSP00000495893.1:p.Glu181Val
ENST00000647209.1:c.*1140A>T	ENSP00000495558.1:n.*1140A>T
ENST00000647346.1:n.2291A>T
ENST00000299427.10:c.1271A>T	ENSP00000299427.6:p.Glu424Val
ENST00000524611.1:n.149A>T
ENST00000524924.1:n.226A>T
ENST00000532191.1:n.324A>T
ENST00000533371.5:c.542A>T	ENSP00000437066.1:p.Glu181Val
ENST00000611494.4:c.1271A>T	ENSP00000484546.1:p.Glu424Val
NM_000391.3:c.1271A>T	NP_000382.3:p.Glu424Val
NM_000391.4:c.1271A>T MANE Select	NP_000382.3:p.Glu424Val