Canonical Allele Identifier: CA472922731

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637980C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616749C>A , CM000673.2:g.6616749C>A	GRCh38
NC_000011.9:g.6637980C>A , CM000673.1:g.6637980C>A	GRCh37
NC_000011.8:g.6594556C>A	NCBI36
NG_008653.1:g.7713G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.684G>T	ENSP00000507321.1:p.Arg228=
ENST00000299427.12:c.798G>T MANE Select	ENSP00000299427.6:p.Arg266=
ENST00000436873.7:c.312+552G>T
ENST00000524788.2:n.1957G>T
ENST00000524903.2:n.2073G>T
ENST00000528807.2:n.454G>T
ENST00000530040.2:n.480-246G>T
ENST00000533371.6:c.69G>T	ENSP00000437066.1:p.Arg23=
ENST00000642892.1:c.69G>T	ENSP00000494165.1:p.Arg23=
ENST00000643439.1:c.*538G>T	ENSP00000495849.1:n.*538G>T
ENST00000643479.1:n.827G>T
ENST00000643516.1:c.396-246G>T
ENST00000644151.1:n.2237G>T
ENST00000644218.1:c.798G>T	ENSP00000493574.1:p.Arg266=
ENST00000644683.1:c.*251G>T	ENSP00000494085.1:n.*251G>T
ENST00000644810.1:c.519G>T	ENSP00000495895.1:p.Arg173=
ENST00000644831.1:n.974G>T
ENST00000644933.1:c.69G>T	ENSP00000496133.1:p.Arg23=
ENST00000645020.1:n.2088G>T
ENST00000645285.1:c.69G>T	ENSP00000495058.1:p.Arg23=
ENST00000645331.1:n.1164G>T
ENST00000645620.1:c.69G>T	ENSP00000493657.1:p.Arg23=
ENST00000646777.1:n.974G>T
ENST00000647016.1:n.1278G>T
ENST00000647152.1:c.69G>T	ENSP00000495893.1:p.Arg23=
ENST00000647209.1:c.*667G>T	ENSP00000495558.1:n.*667G>T
ENST00000647346.1:n.1818G>T
ENST00000299427.10:c.798G>T	ENSP00000299427.6:p.Arg266=
ENST00000436873.6:c.451-246G>T	ENSP00000398136.2:n.451-246G>T
ENST00000524788.1:n.498G>T
ENST00000528807.1:n.348G>T
ENST00000533371.5:c.69G>T	ENSP00000437066.1:p.Arg23=
ENST00000611494.4:c.798G>T	ENSP00000484546.1:p.Arg266=
NM_000391.3:c.798G>T	NP_000382.3:p.Arg266=
NM_000391.4:c.798G>T MANE Select	NP_000382.3:p.Arg266=