Canonical Allele Identifier: CA379474259

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637635T>C (hg19) ; chr11:g.6616404T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616404T>C , CM000673.2:g.6616404T>C	GRCh38
NC_000011.9:g.6637635T>C , CM000673.1:g.6637635T>C	GRCh37
NC_000011.8:g.6594211T>C	NCBI36
NG_008653.1:g.8058A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.872A>G	ENSP00000507321.1:p.Glu291Gly
ENST00000299427.12:c.986A>G MANE Select	ENSP00000299427.6:p.Glu329Gly
ENST00000436873.7:c.313-330A>G
ENST00000533371.6:c.257A>G	ENSP00000437066.1:p.Glu86Gly
ENST00000642892.1:c.257A>G	ENSP00000494165.1:p.Glu86Gly
ENST00000643342.1:c.76A>G
ENST00000643439.1:c.*726A>G	ENSP00000495849.1:n.*726A>G
ENST00000643479.1:n.1172A>G
ENST00000643516.1:c.495A>G
ENST00000644218.1:c.886+257A>G	ENSP00000493574.1:n.886+257A>G
ENST00000644683.1:c.*439A>G	ENSP00000494085.1:n.*439A>G
ENST00000644810.1:c.707A>G	ENSP00000495895.1:p.Glu236Gly
ENST00000644831.1:n.1162A>G
ENST00000644933.1:c.257A>G	ENSP00000496133.1:p.Glu86Gly
ENST00000645285.1:c.157+257A>G	ENSP00000495058.1:n.157+257A>G
ENST00000645331.1:n.1509A>G
ENST00000645620.1:c.257A>G	ENSP00000493657.1:p.Glu86Gly
ENST00000646691.1:n.79A>G
ENST00000646777.1:n.1319A>G
ENST00000647016.1:n.1466A>G
ENST00000647152.1:c.257A>G	ENSP00000495893.1:p.Glu86Gly
ENST00000647209.1:c.*855A>G	ENSP00000495558.1:n.*855A>G
ENST00000647346.1:n.2006A>G
ENST00000299427.10:c.986A>G	ENSP00000299427.6:p.Glu329Gly
ENST00000533371.5:c.257A>G	ENSP00000437066.1:p.Glu86Gly
ENST00000611494.4:c.986A>G	ENSP00000484546.1:p.Glu329Gly
NM_000391.3:c.986A>G	NP_000382.3:p.Glu329Gly
NM_000391.4:c.986A>G MANE Select	NP_000382.3:p.Glu329Gly