Canonical Allele Identifier: CA472922789

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638016C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616785C>T , CM000673.2:g.6616785C>T	GRCh38
NC_000011.9:g.6638016C>T , CM000673.1:g.6638016C>T	GRCh37
NC_000011.8:g.6594592C>T	NCBI36
NG_008653.1:g.7677G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.648G>A	ENSP00000507321.1:p.Gln216=
ENST00000299427.12:c.762G>A MANE Select	ENSP00000299427.6:p.Gln254=
ENST00000436873.7:c.312+516G>A
ENST00000524788.2:n.1921G>A
ENST00000524903.2:n.2037G>A
ENST00000528807.2:n.418G>A
ENST00000530040.2:n.480-282G>A
ENST00000533371.6:c.33G>A	ENSP00000437066.1:p.Gln11=
ENST00000642892.1:c.33G>A	ENSP00000494165.1:p.Gln11=
ENST00000643439.1:c.*502G>A	ENSP00000495849.1:n.*502G>A
ENST00000643479.1:n.791G>A
ENST00000643516.1:c.396-282G>A
ENST00000644151.1:n.2201G>A
ENST00000644218.1:c.762G>A	ENSP00000493574.1:p.Gln254=
ENST00000644683.1:c.*215G>A	ENSP00000494085.1:n.*215G>A
ENST00000644810.1:c.483G>A	ENSP00000495895.1:p.Gln161=
ENST00000644831.1:n.938G>A
ENST00000644933.1:c.33G>A	ENSP00000496133.1:p.Gln11=
ENST00000645020.1:n.2052G>A
ENST00000645285.1:c.33G>A	ENSP00000495058.1:p.Gln11=
ENST00000645331.1:n.1128G>A
ENST00000645620.1:c.33G>A	ENSP00000493657.1:p.Gln11=
ENST00000646777.1:n.938G>A
ENST00000647016.1:n.1242G>A
ENST00000647152.1:c.33G>A	ENSP00000495893.1:p.Gln11=
ENST00000647209.1:c.*631G>A	ENSP00000495558.1:n.*631G>A
ENST00000647346.1:n.1782G>A
ENST00000299427.10:c.762G>A	ENSP00000299427.6:p.Gln254=
ENST00000436873.6:c.451-282G>A	ENSP00000398136.2:n.451-282G>A
ENST00000524788.1:n.462G>A
ENST00000528807.1:n.312G>A
ENST00000533371.5:c.33G>A	ENSP00000437066.1:p.Gln11=
ENST00000611494.4:c.762G>A	ENSP00000484546.1:p.Gln254=
NM_000391.3:c.762G>A	NP_000382.3:p.Gln254=
NM_000391.4:c.762G>A MANE Select	NP_000382.3:p.Gln254=