Canonical Allele Identifier: CA379475044

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637976G>C (hg19) ; chr11:g.6616745G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616745G>C , CM000673.2:g.6616745G>C	GRCh38
NC_000011.9:g.6637976G>C , CM000673.1:g.6637976G>C	GRCh37
NC_000011.8:g.6594552G>C	NCBI36
NG_008653.1:g.7717C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.688C>G	ENSP00000507321.1:p.Arg230Gly
ENST00000299427.12:c.802C>G MANE Select	ENSP00000299427.6:p.Arg268Gly
ENST00000436873.7:c.312+556C>G
ENST00000524788.2:n.1961C>G
ENST00000524903.2:n.2077C>G
ENST00000528807.2:n.458C>G
ENST00000530040.2:n.480-242C>G
ENST00000533371.6:c.73C>G	ENSP00000437066.1:p.Arg25Gly
ENST00000642892.1:c.73C>G	ENSP00000494165.1:p.Arg25Gly
ENST00000643439.1:c.*542C>G	ENSP00000495849.1:n.*542C>G
ENST00000643479.1:n.831C>G
ENST00000643516.1:c.396-242C>G
ENST00000644151.1:n.2241C>G
ENST00000644218.1:c.802C>G	ENSP00000493574.1:p.Arg268Gly
ENST00000644683.1:c.*255C>G	ENSP00000494085.1:n.*255C>G
ENST00000644810.1:c.523C>G	ENSP00000495895.1:p.Arg175Gly
ENST00000644831.1:n.978C>G
ENST00000644933.1:c.73C>G	ENSP00000496133.1:p.Arg25Gly
ENST00000645020.1:n.2092C>G
ENST00000645285.1:c.73C>G	ENSP00000495058.1:p.Arg25Gly
ENST00000645331.1:n.1168C>G
ENST00000645620.1:c.73C>G	ENSP00000493657.1:p.Arg25Gly
ENST00000646777.1:n.978C>G
ENST00000647016.1:n.1282C>G
ENST00000647152.1:c.73C>G	ENSP00000495893.1:p.Arg25Gly
ENST00000647209.1:c.*671C>G	ENSP00000495558.1:n.*671C>G
ENST00000647346.1:n.1822C>G
ENST00000299427.10:c.802C>G	ENSP00000299427.6:p.Arg268Gly
ENST00000436873.6:c.451-242C>G	ENSP00000398136.2:n.451-242C>G
ENST00000524788.1:n.502C>G
ENST00000528807.1:n.352C>G
ENST00000533371.5:c.73C>G	ENSP00000437066.1:p.Arg25Gly
ENST00000611494.4:c.802C>G	ENSP00000484546.1:p.Arg268Gly
NM_000391.3:c.802C>G	NP_000382.3:p.Arg268Gly
NM_000391.4:c.802C>G MANE Select	NP_000382.3:p.Arg268Gly