Canonical Allele Identifier: CA472922263

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636459A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615228A>C , CM000673.2:g.6615228A>C	GRCh38
NC_000011.9:g.6636459A>C , CM000673.1:g.6636459A>C	GRCh37
NC_000011.8:g.6593035A>C	NCBI36
NG_008653.1:g.9234T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1254T>G	ENSP00000507321.1:p.Ser418=
ENST00000299427.12:c.1368T>G MANE Select	ENSP00000299427.6:p.Ser456=
ENST00000524611.2:n.228T>G
ENST00000524924.2:n.488T>G
ENST00000533371.6:c.639T>G	ENSP00000437066.1:p.Ser213=
ENST00000642892.1:c.639T>G	ENSP00000494165.1:p.Ser213=
ENST00000643342.1:c.441T>G
ENST00000643439.1:c.*1108T>G	ENSP00000495849.1:n.*1108T>G
ENST00000643479.1:n.1554T>G
ENST00000643516.1:c.877T>G
ENST00000644218.1:c.1179T>G	ENSP00000493574.1:p.Ser393=
ENST00000644683.1:c.*821T>G	ENSP00000494085.1:n.*821T>G
ENST00000644810.1:c.1089T>G	ENSP00000495895.1:p.Ser363=
ENST00000644831.1:n.1544T>G
ENST00000644933.1:c.*234T>G	ENSP00000496133.1:n.*234T>G
ENST00000645285.1:c.*234T>G	ENSP00000495058.1:n.*234T>G
ENST00000645331.1:n.2573T>G
ENST00000645620.1:c.639T>G	ENSP00000493657.1:p.Ser213=
ENST00000646691.1:n.1255T>G
ENST00000646777.1:n.1701T>G
ENST00000647016.1:n.1848T>G
ENST00000647152.1:c.639T>G	ENSP00000495893.1:p.Ser213=
ENST00000647209.1:c.*1237T>G	ENSP00000495558.1:n.*1237T>G
ENST00000647346.1:n.2388T>G
ENST00000299427.10:c.1368T>G	ENSP00000299427.6:p.Ser456=
ENST00000524611.1:n.246T>G
ENST00000532191.1:n.421T>G
ENST00000533371.5:c.639T>G	ENSP00000437066.1:p.Ser213=
ENST00000611494.4:c.1368T>G	ENSP00000484546.1:p.Ser456=
NM_000391.3:c.1368T>G	NP_000382.3:p.Ser456=
NM_000391.4:c.1368T>G MANE Select	NP_000382.3:p.Ser456=