Canonical Allele Identifier: CA379472909

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636700G>C (hg19) ; chr11:g.6615469G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615469G>C , CM000673.2:g.6615469G>C	GRCh38
NC_000011.9:g.6636700G>C , CM000673.1:g.6636700G>C	GRCh37
NC_000011.8:g.6593276G>C	NCBI36
NG_008653.1:g.8993C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1125C>G	ENSP00000507321.1:p.Ser375Arg
ENST00000299427.12:c.1239C>G MANE Select	ENSP00000299427.6:p.Ser413Arg
ENST00000436873.7:c.476C>G
ENST00000524924.2:n.359C>G
ENST00000533371.6:c.510C>G	ENSP00000437066.1:p.Ser170Arg
ENST00000642892.1:c.510C>G	ENSP00000494165.1:p.Ser170Arg
ENST00000643342.1:c.312C>G
ENST00000643439.1:c.*979C>G	ENSP00000495849.1:n.*979C>G
ENST00000643479.1:n.1425C>G
ENST00000643516.1:c.748C>G
ENST00000644218.1:c.1050C>G	ENSP00000493574.1:p.Ser350Arg
ENST00000644683.1:c.*692C>G	ENSP00000494085.1:n.*692C>G
ENST00000644810.1:c.960C>G	ENSP00000495895.1:p.Ser320Arg
ENST00000644831.1:n.1415C>G
ENST00000644933.1:c.*105C>G	ENSP00000496133.1:n.*105C>G
ENST00000645285.1:c.*105C>G	ENSP00000495058.1:n.*105C>G
ENST00000645331.1:n.2444C>G
ENST00000645620.1:c.510C>G	ENSP00000493657.1:p.Ser170Arg
ENST00000646691.1:n.1014C>G
ENST00000646777.1:n.1572C>G
ENST00000647016.1:n.1719C>G
ENST00000647152.1:c.510C>G	ENSP00000495893.1:p.Ser170Arg
ENST00000647209.1:c.*1108C>G	ENSP00000495558.1:n.*1108C>G
ENST00000647346.1:n.2259C>G
ENST00000299427.10:c.1239C>G	ENSP00000299427.6:p.Ser413Arg
ENST00000524611.1:n.5C>G
ENST00000524924.1:n.194C>G
ENST00000532191.1:n.292C>G
ENST00000533371.5:c.510C>G	ENSP00000437066.1:p.Ser170Arg
ENST00000611494.4:c.1239C>G	ENSP00000484546.1:p.Ser413Arg
NM_000391.3:c.1239C>G	NP_000382.3:p.Ser413Arg
NM_000391.4:c.1239C>G MANE Select	NP_000382.3:p.Ser413Arg