Canonical Allele Identifier: CA379473640

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637237T>G (hg19) ; chr11:g.6616006T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616006T>G , CM000673.2:g.6616006T>G	GRCh38
NC_000011.9:g.6637237T>G , CM000673.1:g.6637237T>G	GRCh37
NC_000011.8:g.6593813T>G	NCBI36
NG_008653.1:g.8456A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1030A>C	ENSP00000507321.1:p.Ser344Arg
ENST00000299427.12:c.1144A>C MANE Select	ENSP00000299427.6:p.Ser382Arg
ENST00000436873.7:c.381A>C
ENST00000524924.2:n.264A>C
ENST00000533371.6:c.415A>C	ENSP00000437066.1:p.Ser139Arg
ENST00000642892.1:c.415A>C	ENSP00000494165.1:p.Ser139Arg
ENST00000643342.1:c.234A>C
ENST00000643439.1:c.*884A>C	ENSP00000495849.1:n.*884A>C
ENST00000643479.1:n.1330A>C
ENST00000643516.1:c.653A>C
ENST00000644218.1:c.955A>C	ENSP00000493574.1:p.Ser319Arg
ENST00000644683.1:c.*597A>C	ENSP00000494085.1:n.*597A>C
ENST00000644810.1:c.865A>C	ENSP00000495895.1:p.Ser289Arg
ENST00000644831.1:n.1320A>C
ENST00000644933.1:c.415A>C	ENSP00000496133.1:p.Arg139=
ENST00000645285.1:c.226A>C	ENSP00000495058.1:p.Arg76=
ENST00000645331.1:n.1907A>C
ENST00000645620.1:c.415A>C	ENSP00000493657.1:p.Ser139Arg
ENST00000646691.1:n.477A>C
ENST00000646777.1:n.1477A>C
ENST00000647016.1:n.1624A>C
ENST00000647152.1:c.415A>C	ENSP00000495893.1:p.Ser139Arg
ENST00000647209.1:c.*1013A>C	ENSP00000495558.1:n.*1013A>C
ENST00000647346.1:n.2164A>C
ENST00000299427.10:c.1144A>C	ENSP00000299427.6:p.Ser382Arg
ENST00000524924.1:n.99A>C
ENST00000533371.5:c.415A>C	ENSP00000437066.1:p.Ser139Arg
ENST00000611494.4:c.1144A>C	ENSP00000484546.1:p.Ser382Arg
NM_000391.3:c.1144A>C	NP_000382.3:p.Ser382Arg
NM_000391.4:c.1144A>C MANE Select	NP_000382.3:p.Ser382Arg