Canonical Allele Identifier: CA472771673

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636712A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615481A>G , CM000673.2:g.6615481A>G	GRCh38
NC_000011.9:g.6636712A>G , CM000673.1:g.6636712A>G	GRCh37
NC_000011.8:g.6593288A>G	NCBI36
NG_008653.1:g.8981T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1113T>C	ENSP00000507321.1:p.Gly371=
ENST00000299427.12:c.1227T>C MANE Select	ENSP00000299427.6:p.Gly409=
ENST00000436873.7:c.464T>C
ENST00000524924.2:n.347T>C
ENST00000533371.6:c.498T>C	ENSP00000437066.1:p.Gly166=
ENST00000642892.1:c.498T>C	ENSP00000494165.1:p.Gly166=
ENST00000643342.1:c.300T>C
ENST00000643439.1:c.*967T>C	ENSP00000495849.1:n.*967T>C
ENST00000643479.1:n.1413T>C
ENST00000643516.1:c.736T>C
ENST00000644218.1:c.1038T>C	ENSP00000493574.1:p.Gly346=
ENST00000644683.1:c.*680T>C	ENSP00000494085.1:n.*680T>C
ENST00000644810.1:c.948T>C	ENSP00000495895.1:p.Gly316=
ENST00000644831.1:n.1403T>C
ENST00000644933.1:c.*93T>C	ENSP00000496133.1:n.*93T>C
ENST00000645285.1:c.*93T>C	ENSP00000495058.1:n.*93T>C
ENST00000645331.1:n.2432T>C
ENST00000645620.1:c.498T>C	ENSP00000493657.1:p.Gly166=
ENST00000646691.1:n.1002T>C
ENST00000646777.1:n.1560T>C
ENST00000647016.1:n.1707T>C
ENST00000647152.1:c.498T>C	ENSP00000495893.1:p.Gly166=
ENST00000647209.1:c.*1096T>C	ENSP00000495558.1:n.*1096T>C
ENST00000647346.1:n.2247T>C
ENST00000299427.10:c.1227T>C	ENSP00000299427.6:p.Gly409=
ENST00000524924.1:n.182T>C
ENST00000532191.1:n.280T>C
ENST00000533371.5:c.498T>C	ENSP00000437066.1:p.Gly166=
ENST00000611494.4:c.1227T>C	ENSP00000484546.1:p.Gly409=
NM_000391.3:c.1227T>C	NP_000382.3:p.Gly409=
NM_000391.4:c.1227T>C MANE Select	NP_000382.3:p.Gly409=