Canonical Allele Identifier: CA472922670

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638043G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616812G>T , CM000673.2:g.6616812G>T	GRCh38
NC_000011.9:g.6638043G>T , CM000673.1:g.6638043G>T	GRCh37
NC_000011.8:g.6594619G>T	NCBI36
NG_008653.1:g.7650C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.621C>A	ENSP00000507321.1:p.Arg207=
ENST00000299427.12:c.735C>A MANE Select	ENSP00000299427.6:p.Arg245=
ENST00000436873.7:c.312+489C>A
ENST00000524788.2:n.1894C>A
ENST00000524903.2:n.2010C>A
ENST00000528807.2:n.391C>A
ENST00000530040.2:n.480-309C>A
ENST00000533371.6:c.6C>A	ENSP00000437066.1:p.Arg2=
ENST00000642892.1:c.6C>A	ENSP00000494165.1:p.Arg2=
ENST00000643439.1:c.*475C>A	ENSP00000495849.1:n.*475C>A
ENST00000643479.1:n.764C>A
ENST00000643516.1:c.396-309C>A
ENST00000644151.1:n.2174C>A
ENST00000644218.1:c.735C>A	ENSP00000493574.1:p.Arg245=
ENST00000644683.1:c.*188C>A	ENSP00000494085.1:n.*188C>A
ENST00000644810.1:c.456C>A	ENSP00000495895.1:p.Arg152=
ENST00000644831.1:n.911C>A
ENST00000644933.1:c.6C>A	ENSP00000496133.1:p.Arg2=
ENST00000645020.1:n.2025C>A
ENST00000645285.1:c.6C>A	ENSP00000495058.1:p.Arg2=
ENST00000645331.1:n.1101C>A
ENST00000645620.1:c.6C>A	ENSP00000493657.1:p.Arg2=
ENST00000646777.1:n.911C>A
ENST00000647016.1:n.1215C>A
ENST00000647152.1:c.6C>A	ENSP00000495893.1:p.Arg2=
ENST00000647209.1:c.*604C>A	ENSP00000495558.1:n.*604C>A
ENST00000647346.1:n.1755C>A
ENST00000299427.10:c.735C>A	ENSP00000299427.6:p.Arg245=
ENST00000436873.6:c.451-309C>A	ENSP00000398136.2:n.451-309C>A
ENST00000524788.1:n.435C>A
ENST00000528807.1:n.285C>A
ENST00000533371.5:c.6C>A	ENSP00000437066.1:p.Arg2=
ENST00000611494.4:c.735C>A	ENSP00000484546.1:p.Arg245=
NM_000391.3:c.735C>A	NP_000382.3:p.Arg245=
NM_000391.4:c.735C>A MANE Select	NP_000382.3:p.Arg245=