Canonical Allele Identifier: CA379472951

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636718G>C (hg19) ; chr11:g.6615487G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615487G>C , CM000673.2:g.6615487G>C	GRCh38
NC_000011.9:g.6636718G>C , CM000673.1:g.6636718G>C	GRCh37
NC_000011.8:g.6593294G>C	NCBI36
NG_008653.1:g.8975C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1107C>G	ENSP00000507321.1:p.Ile369Met
ENST00000299427.12:c.1221C>G MANE Select	ENSP00000299427.6:p.Ile407Met
ENST00000436873.7:c.458C>G
ENST00000524924.2:n.341C>G
ENST00000533371.6:c.492C>G	ENSP00000437066.1:p.Ile164Met
ENST00000642892.1:c.492C>G	ENSP00000494165.1:p.Ile164Met
ENST00000643342.1:c.294C>G
ENST00000643439.1:c.*961C>G	ENSP00000495849.1:n.*961C>G
ENST00000643479.1:n.1407C>G
ENST00000643516.1:c.730C>G
ENST00000644218.1:c.1032C>G	ENSP00000493574.1:p.Ile344Met
ENST00000644683.1:c.*674C>G	ENSP00000494085.1:n.*674C>G
ENST00000644810.1:c.942C>G	ENSP00000495895.1:p.Ile314Met
ENST00000644831.1:n.1397C>G
ENST00000644933.1:c.*87C>G	ENSP00000496133.1:n.*87C>G
ENST00000645285.1:c.*87C>G	ENSP00000495058.1:n.*87C>G
ENST00000645331.1:n.2426C>G
ENST00000645620.1:c.492C>G	ENSP00000493657.1:p.Ile164Met
ENST00000646691.1:n.996C>G
ENST00000646777.1:n.1554C>G
ENST00000647016.1:n.1701C>G
ENST00000647152.1:c.492C>G	ENSP00000495893.1:p.Ile164Met
ENST00000647209.1:c.*1090C>G	ENSP00000495558.1:n.*1090C>G
ENST00000647346.1:n.2241C>G
ENST00000299427.10:c.1221C>G	ENSP00000299427.6:p.Ile407Met
ENST00000524924.1:n.176C>G
ENST00000532191.1:n.274C>G
ENST00000533371.5:c.492C>G	ENSP00000437066.1:p.Ile164Met
ENST00000611494.4:c.1221C>G	ENSP00000484546.1:p.Ile407Met
NM_000391.3:c.1221C>G	NP_000382.3:p.Ile407Met
NM_000391.4:c.1221C>G MANE Select	NP_000382.3:p.Ile407Met