Canonical Allele Identifier: CA379475038

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637972G>C (hg19) ; chr11:g.6616741G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616741G>C , CM000673.2:g.6616741G>C	GRCh38
NC_000011.9:g.6637972G>C , CM000673.1:g.6637972G>C	GRCh37
NC_000011.8:g.6594548G>C	NCBI36
NG_008653.1:g.7721C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.692C>G	ENSP00000507321.1:p.Ala231Gly
ENST00000299427.12:c.806C>G MANE Select	ENSP00000299427.6:p.Ala269Gly
ENST00000436873.7:c.312+560C>G
ENST00000524788.2:n.1965C>G
ENST00000524903.2:n.2081C>G
ENST00000528807.2:n.462C>G
ENST00000530040.2:n.480-238C>G
ENST00000533371.6:c.77C>G	ENSP00000437066.1:p.Ala26Gly
ENST00000642892.1:c.77C>G	ENSP00000494165.1:p.Ala26Gly
ENST00000643439.1:c.*546C>G	ENSP00000495849.1:n.*546C>G
ENST00000643479.1:n.835C>G
ENST00000643516.1:c.396-238C>G
ENST00000644151.1:n.2245C>G
ENST00000644218.1:c.806C>G	ENSP00000493574.1:p.Ala269Gly
ENST00000644683.1:c.*259C>G	ENSP00000494085.1:n.*259C>G
ENST00000644810.1:c.527C>G	ENSP00000495895.1:p.Ala176Gly
ENST00000644831.1:n.982C>G
ENST00000644933.1:c.77C>G	ENSP00000496133.1:p.Ala26Gly
ENST00000645020.1:n.2096C>G
ENST00000645285.1:c.77C>G	ENSP00000495058.1:p.Ala26Gly
ENST00000645331.1:n.1172C>G
ENST00000645620.1:c.77C>G	ENSP00000493657.1:p.Ala26Gly
ENST00000646777.1:n.982C>G
ENST00000647016.1:n.1286C>G
ENST00000647152.1:c.77C>G	ENSP00000495893.1:p.Ala26Gly
ENST00000647209.1:c.*675C>G	ENSP00000495558.1:n.*675C>G
ENST00000647346.1:n.1826C>G
ENST00000299427.10:c.806C>G	ENSP00000299427.6:p.Ala269Gly
ENST00000436873.6:c.451-238C>G	ENSP00000398136.2:n.451-238C>G
ENST00000524788.1:n.506C>G
ENST00000528807.1:n.356C>G
ENST00000533371.5:c.77C>G	ENSP00000437066.1:p.Ala26Gly
ENST00000611494.4:c.806C>G	ENSP00000484546.1:p.Ala269Gly
NM_000391.3:c.806C>G	NP_000382.3:p.Ala269Gly
NM_000391.4:c.806C>G MANE Select	NP_000382.3:p.Ala269Gly