Canonical Allele Identifier: CA379474654

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2231378
• ClinVar RCV Id: RCV002708030
• MyVariant Identifiers: chr11:g.6637716T>C (hg19) ; chr11:g.6616485T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616485T>C , CM000673.2:g.6616485T>C	GRCh38
NC_000011.9:g.6637716T>C , CM000673.1:g.6637716T>C	GRCh37
NC_000011.8:g.6594292T>C	NCBI36
NG_008653.1:g.7977A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.791A>G	ENSP00000507321.1:p.Glu264Gly
ENST00000299427.12:c.905A>G MANE Select	ENSP00000299427.6:p.Glu302Gly
ENST00000436873.7:c.313-411A>G
ENST00000530040.2:n.498A>G
ENST00000533371.6:c.176A>G	ENSP00000437066.1:p.Glu59Gly
ENST00000642892.1:c.176A>G	ENSP00000494165.1:p.Glu59Gly
ENST00000643439.1:c.*645A>G	ENSP00000495849.1:n.*645A>G
ENST00000643479.1:n.1091A>G
ENST00000643516.1:c.414A>G
ENST00000644218.1:c.886+176A>G	ENSP00000493574.1:n.886+176A>G
ENST00000644683.1:c.*358A>G	ENSP00000494085.1:n.*358A>G
ENST00000644810.1:c.626A>G	ENSP00000495895.1:p.Glu209Gly
ENST00000644831.1:n.1081A>G
ENST00000644933.1:c.176A>G	ENSP00000496133.1:p.Glu59Gly
ENST00000645285.1:c.157+176A>G	ENSP00000495058.1:n.157+176A>G
ENST00000645331.1:n.1428A>G
ENST00000645620.1:c.176A>G	ENSP00000493657.1:p.Glu59Gly
ENST00000646777.1:n.1238A>G
ENST00000647016.1:n.1385A>G
ENST00000647152.1:c.176A>G	ENSP00000495893.1:p.Glu59Gly
ENST00000647209.1:c.*774A>G	ENSP00000495558.1:n.*774A>G
ENST00000647346.1:n.1925A>G
ENST00000299427.10:c.905A>G	ENSP00000299427.6:p.Glu302Gly
ENST00000436873.6:c.469A>G	ENSP00000398136.2:p.Ser157Gly
ENST00000533371.5:c.176A>G	ENSP00000437066.1:p.Glu59Gly
ENST00000611494.4:c.905A>G	ENSP00000484546.1:p.Glu302Gly
NM_000391.3:c.905A>G	NP_000382.3:p.Glu302Gly
NM_000391.4:c.905A>G MANE Select	NP_000382.3:p.Glu302Gly