Canonical Allele Identifier: CA379475340

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638223T>C (hg19) ; chr11:g.6616992T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616992T>C , CM000673.2:g.6616992T>C	GRCh38
NC_000011.9:g.6638223T>C , CM000673.1:g.6638223T>C	GRCh37
NC_000011.8:g.6594799T>C	NCBI36
NG_008653.1:g.7470A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.556A>G	ENSP00000507321.1:p.Ser186Gly
ENST00000299427.12:c.670A>G MANE Select	ENSP00000299427.6:p.Ser224Gly
ENST00000436873.7:c.312+309A>G
ENST00000524788.2:n.1829A>G
ENST00000524903.2:n.1945A>G
ENST00000528807.2:n.326A>G
ENST00000530040.2:n.479+367A>G
ENST00000533371.6:c.-60A>G	ENSP00000437066.1:n.-60A>G
ENST00000534644.6:n.618A>G
ENST00000642892.1:c.-60A>G	ENSP00000494165.1:n.-60A>G
ENST00000643439.1:c.*410A>G	ENSP00000495849.1:n.*410A>G
ENST00000643479.1:n.699A>G
ENST00000643516.1:c.395+309A>G
ENST00000644151.1:n.2109A>G
ENST00000644218.1:c.670A>G	ENSP00000493574.1:p.Ser224Gly
ENST00000644683.1:c.*123A>G	ENSP00000494085.1:n.*123A>G
ENST00000644810.1:c.391A>G	ENSP00000495895.1:p.Ser131Gly
ENST00000644831.1:n.846A>G
ENST00000644933.1:c.-60A>G	ENSP00000496133.1:n.-60A>G
ENST00000645020.1:n.1845A>G
ENST00000645285.1:c.-60A>G	ENSP00000495058.1:n.-60A>G
ENST00000645331.1:n.1036A>G
ENST00000645620.1:c.-60A>G	ENSP00000493657.1:n.-60A>G
ENST00000646777.1:n.846A>G
ENST00000647016.1:n.1150A>G
ENST00000647152.1:c.-60A>G	ENSP00000495893.1:n.-60A>G
ENST00000647209.1:c.*539A>G	ENSP00000495558.1:n.*539A>G
ENST00000647346.1:n.1690A>G
ENST00000299427.10:c.670A>G	ENSP00000299427.6:p.Ser224Gly
ENST00000428886.6:n.839A>G
ENST00000436873.6:c.450+367A>G	ENSP00000398136.2:n.450+367A>G
ENST00000524788.1:n.370A>G
ENST00000528571.5:c.*410A>G	ENSP00000434647.1:n.*410A>G
ENST00000528807.1:n.220A>G
ENST00000533371.5:c.-60A>G	ENSP00000437066.1:n.-60A>G
ENST00000611494.4:c.670A>G	ENSP00000484546.1:p.Ser224Gly
NM_000391.3:c.670A>G	NP_000382.3:p.Ser224Gly
NM_000391.4:c.670A>G MANE Select	NP_000382.3:p.Ser224Gly