Canonical Allele Identifier: CA379475015

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637960G>C (hg19) ; chr11:g.6616729G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616729G>C , CM000673.2:g.6616729G>C	GRCh38
NC_000011.9:g.6637960G>C , CM000673.1:g.6637960G>C	GRCh37
NC_000011.8:g.6594536G>C	NCBI36
NG_008653.1:g.7733C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.704C>G	ENSP00000507321.1:p.Ala235Gly
ENST00000299427.12:c.818C>G MANE Select	ENSP00000299427.6:p.Ala273Gly
ENST00000436873.7:c.312+572C>G
ENST00000524788.2:n.1977C>G
ENST00000524903.2:n.2093C>G
ENST00000528807.2:n.474C>G
ENST00000530040.2:n.480-226C>G
ENST00000533371.6:c.89C>G	ENSP00000437066.1:p.Ala30Gly
ENST00000642892.1:c.89C>G	ENSP00000494165.1:p.Ala30Gly
ENST00000643439.1:c.*558C>G	ENSP00000495849.1:n.*558C>G
ENST00000643479.1:n.847C>G
ENST00000643516.1:c.396-226C>G
ENST00000644151.1:n.2257C>G
ENST00000644218.1:c.818C>G	ENSP00000493574.1:p.Ala273Gly
ENST00000644683.1:c.*271C>G	ENSP00000494085.1:n.*271C>G
ENST00000644810.1:c.539C>G	ENSP00000495895.1:p.Ala180Gly
ENST00000644831.1:n.994C>G
ENST00000644933.1:c.89C>G	ENSP00000496133.1:p.Ala30Gly
ENST00000645020.1:n.2108C>G
ENST00000645285.1:c.89C>G	ENSP00000495058.1:p.Ala30Gly
ENST00000645331.1:n.1184C>G
ENST00000645620.1:c.89C>G	ENSP00000493657.1:p.Ala30Gly
ENST00000646777.1:n.994C>G
ENST00000647016.1:n.1298C>G
ENST00000647152.1:c.89C>G	ENSP00000495893.1:p.Ala30Gly
ENST00000647209.1:c.*687C>G	ENSP00000495558.1:n.*687C>G
ENST00000647346.1:n.1838C>G
ENST00000299427.10:c.818C>G	ENSP00000299427.6:p.Ala273Gly
ENST00000436873.6:c.451-226C>G	ENSP00000398136.2:n.451-226C>G
ENST00000524788.1:n.518C>G
ENST00000528807.1:n.368C>G
ENST00000533371.5:c.89C>G	ENSP00000437066.1:p.Ala30Gly
ENST00000611494.4:c.818C>G	ENSP00000484546.1:p.Ala273Gly
NM_000391.3:c.818C>G	NP_000382.3:p.Ala273Gly
NM_000391.4:c.818C>G MANE Select	NP_000382.3:p.Ala273Gly