Canonical Allele Identifier: CA379472621

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636456A>C (hg19) ; chr11:g.6615225A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615225A>C , CM000673.2:g.6615225A>C	GRCh38
NC_000011.9:g.6636456A>C , CM000673.1:g.6636456A>C	GRCh37
NC_000011.8:g.6593032A>C	NCBI36
NG_008653.1:g.9237T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1257T>G	ENSP00000507321.1:p.Asp419Glu
ENST00000299427.12:c.1371T>G MANE Select	ENSP00000299427.6:p.Asp457Glu
ENST00000524611.2:n.231T>G
ENST00000524924.2:n.491T>G
ENST00000533371.6:c.642T>G	ENSP00000437066.1:p.Asp214Glu
ENST00000642892.1:c.642T>G	ENSP00000494165.1:p.Asp214Glu
ENST00000643342.1:c.444T>G
ENST00000643439.1:c.*1111T>G	ENSP00000495849.1:n.*1111T>G
ENST00000643479.1:n.1557T>G
ENST00000643516.1:c.880T>G
ENST00000644218.1:c.1182T>G	ENSP00000493574.1:p.Asp394Glu
ENST00000644683.1:c.*824T>G	ENSP00000494085.1:n.*824T>G
ENST00000644810.1:c.1092T>G	ENSP00000495895.1:p.Asp364Glu
ENST00000644831.1:n.1547T>G
ENST00000644933.1:c.*237T>G	ENSP00000496133.1:n.*237T>G
ENST00000645285.1:c.*237T>G	ENSP00000495058.1:n.*237T>G
ENST00000645331.1:n.2576T>G
ENST00000645620.1:c.642T>G	ENSP00000493657.1:p.Asp214Glu
ENST00000646691.1:n.1258T>G
ENST00000646777.1:n.1704T>G
ENST00000647016.1:n.1851T>G
ENST00000647152.1:c.642T>G	ENSP00000495893.1:p.Asp214Glu
ENST00000647209.1:c.*1240T>G	ENSP00000495558.1:n.*1240T>G
ENST00000647346.1:n.2391T>G
ENST00000299427.10:c.1371T>G	ENSP00000299427.6:p.Asp457Glu
ENST00000524611.1:n.249T>G
ENST00000532191.1:n.424T>G
ENST00000533371.5:c.642T>G	ENSP00000437066.1:p.Asp214Glu
ENST00000611494.4:c.1371T>G	ENSP00000484546.1:p.Asp457Glu
NM_000391.3:c.1371T>G	NP_000382.3:p.Asp457Glu
NM_000391.4:c.1371T>G MANE Select	NP_000382.3:p.Asp457Glu