Canonical Allele Identifier: CA472922689

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637944C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616713C>T , CM000673.2:g.6616713C>T	GRCh38
NC_000011.9:g.6637944C>T , CM000673.1:g.6637944C>T	GRCh37
NC_000011.8:g.6594520C>T	NCBI36
NG_008653.1:g.7749G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.720G>A	ENSP00000507321.1:p.Gln240=
ENST00000299427.12:c.834G>A MANE Select	ENSP00000299427.6:p.Gln278=
ENST00000436873.7:c.312+588G>A
ENST00000524788.2:n.1993G>A
ENST00000524903.2:n.2109G>A
ENST00000528807.2:n.490G>A
ENST00000530040.2:n.480-210G>A
ENST00000533371.6:c.105G>A	ENSP00000437066.1:p.Gln35=
ENST00000642892.1:c.105G>A	ENSP00000494165.1:p.Gln35=
ENST00000643439.1:c.*574G>A	ENSP00000495849.1:n.*574G>A
ENST00000643479.1:n.863G>A
ENST00000643516.1:c.396-210G>A
ENST00000644151.1:n.2273G>A
ENST00000644218.1:c.834G>A	ENSP00000493574.1:p.Gln278=
ENST00000644683.1:c.*287G>A	ENSP00000494085.1:n.*287G>A
ENST00000644810.1:c.555G>A	ENSP00000495895.1:p.Gln185=
ENST00000644831.1:n.1010G>A
ENST00000644933.1:c.105G>A	ENSP00000496133.1:p.Gln35=
ENST00000645020.1:n.2124G>A
ENST00000645285.1:c.105G>A	ENSP00000495058.1:p.Gln35=
ENST00000645331.1:n.1200G>A
ENST00000645620.1:c.105G>A	ENSP00000493657.1:p.Gln35=
ENST00000646777.1:n.1010G>A
ENST00000647016.1:n.1314G>A
ENST00000647152.1:c.105G>A	ENSP00000495893.1:p.Gln35=
ENST00000647209.1:c.*703G>A	ENSP00000495558.1:n.*703G>A
ENST00000647346.1:n.1854G>A
ENST00000299427.10:c.834G>A	ENSP00000299427.6:p.Gln278=
ENST00000436873.6:c.451-210G>A	ENSP00000398136.2:n.451-210G>A
ENST00000524788.1:n.534G>A
ENST00000528807.1:n.384G>A
ENST00000533371.5:c.105G>A	ENSP00000437066.1:p.Gln35=
ENST00000611494.4:c.834G>A	ENSP00000484546.1:p.Gln278=
NM_000391.3:c.834G>A	NP_000382.3:p.Gln278=
NM_000391.4:c.834G>A MANE Select	NP_000382.3:p.Gln278=