Canonical Allele Identifier: CA379475073

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637991G>T (hg19) ; chr11:g.6616760G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616760G>T , CM000673.2:g.6616760G>T	GRCh38
NC_000011.9:g.6637991G>T , CM000673.1:g.6637991G>T	GRCh37
NC_000011.8:g.6594567G>T	NCBI36
NG_008653.1:g.7702C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.673C>A	ENSP00000507321.1:p.Gln225Lys
ENST00000299427.12:c.787C>A MANE Select	ENSP00000299427.6:p.Gln263Lys
ENST00000436873.7:c.312+541C>A
ENST00000524788.2:n.1946C>A
ENST00000524903.2:n.2062C>A
ENST00000528807.2:n.443C>A
ENST00000530040.2:n.480-257C>A
ENST00000533371.6:c.58C>A	ENSP00000437066.1:p.Gln20Lys
ENST00000642892.1:c.58C>A	ENSP00000494165.1:p.Gln20Lys
ENST00000643439.1:c.*527C>A	ENSP00000495849.1:n.*527C>A
ENST00000643479.1:n.816C>A
ENST00000643516.1:c.396-257C>A
ENST00000644151.1:n.2226C>A
ENST00000644218.1:c.787C>A	ENSP00000493574.1:p.Gln263Lys
ENST00000644683.1:c.*240C>A	ENSP00000494085.1:n.*240C>A
ENST00000644810.1:c.508C>A	ENSP00000495895.1:p.Gln170Lys
ENST00000644831.1:n.963C>A
ENST00000644933.1:c.58C>A	ENSP00000496133.1:p.Gln20Lys
ENST00000645020.1:n.2077C>A
ENST00000645285.1:c.58C>A	ENSP00000495058.1:p.Gln20Lys
ENST00000645331.1:n.1153C>A
ENST00000645620.1:c.58C>A	ENSP00000493657.1:p.Gln20Lys
ENST00000646777.1:n.963C>A
ENST00000647016.1:n.1267C>A
ENST00000647152.1:c.58C>A	ENSP00000495893.1:p.Gln20Lys
ENST00000647209.1:c.*656C>A	ENSP00000495558.1:n.*656C>A
ENST00000647346.1:n.1807C>A
ENST00000299427.10:c.787C>A	ENSP00000299427.6:p.Gln263Lys
ENST00000436873.6:c.451-257C>A	ENSP00000398136.2:n.451-257C>A
ENST00000524788.1:n.487C>A
ENST00000528807.1:n.337C>A
ENST00000533371.5:c.58C>A	ENSP00000437066.1:p.Gln20Lys
ENST00000611494.4:c.787C>A	ENSP00000484546.1:p.Gln263Lys
NM_000391.3:c.787C>A	NP_000382.3:p.Gln263Lys
NM_000391.4:c.787C>A MANE Select	NP_000382.3:p.Gln263Lys