Canonical Allele Identifier: CA379472557

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636427G>C (hg19) ; chr11:g.6615196G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615196G>C , CM000673.2:g.6615196G>C	GRCh38
NC_000011.9:g.6636427G>C , CM000673.1:g.6636427G>C	GRCh37
NC_000011.8:g.6593003G>C	NCBI36
NG_008653.1:g.9266C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1286C>G	ENSP00000507321.1:p.Pro429Arg
ENST00000299427.12:c.1400C>G MANE Select	ENSP00000299427.6:p.Pro467Arg
ENST00000524611.2:n.260C>G
ENST00000524924.2:n.520C>G
ENST00000533371.6:c.671C>G	ENSP00000437066.1:p.Pro224Arg
ENST00000642892.1:c.671C>G	ENSP00000494165.1:p.Pro224Arg
ENST00000643342.1:c.473C>G
ENST00000643439.1:c.*1140C>G	ENSP00000495849.1:n.*1140C>G
ENST00000643479.1:n.1586C>G
ENST00000643516.1:c.909C>G
ENST00000644218.1:c.1211C>G	ENSP00000493574.1:p.Pro404Arg
ENST00000644683.1:c.*853C>G	ENSP00000494085.1:n.*853C>G
ENST00000644810.1:c.1121C>G	ENSP00000495895.1:p.Pro374Arg
ENST00000644831.1:n.1576C>G
ENST00000644933.1:c.*266C>G	ENSP00000496133.1:n.*266C>G
ENST00000645285.1:c.*266C>G	ENSP00000495058.1:n.*266C>G
ENST00000645331.1:n.2605C>G
ENST00000645620.1:c.671C>G	ENSP00000493657.1:p.Pro224Arg
ENST00000646691.1:n.1287C>G
ENST00000646777.1:n.1733C>G
ENST00000647016.1:n.1880C>G
ENST00000647152.1:c.671C>G	ENSP00000495893.1:p.Pro224Arg
ENST00000647209.1:c.*1269C>G	ENSP00000495558.1:n.*1269C>G
ENST00000647346.1:n.2420C>G
ENST00000299427.10:c.1400C>G	ENSP00000299427.6:p.Pro467Arg
ENST00000524611.1:n.278C>G
ENST00000533371.5:c.671C>G	ENSP00000437066.1:p.Pro224Arg
ENST00000611494.4:c.1400C>G	ENSP00000484546.1:p.Pro467Arg
NM_000391.3:c.1400C>G	NP_000382.3:p.Pro467Arg
NM_000391.4:c.1400C>G MANE Select	NP_000382.3:p.Pro467Arg