Canonical Allele Identifier: CA379475308

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638210G>C (hg19) ; chr11:g.6616979G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616979G>C , CM000673.2:g.6616979G>C	GRCh38
NC_000011.9:g.6638210G>C , CM000673.1:g.6638210G>C	GRCh37
NC_000011.8:g.6594786G>C	NCBI36
NG_008653.1:g.7483C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.569C>G	ENSP00000507321.1:p.Ala190Gly
ENST00000299427.12:c.683C>G MANE Select	ENSP00000299427.6:p.Ala228Gly
ENST00000436873.7:c.312+322C>G
ENST00000524788.2:n.1842C>G
ENST00000524903.2:n.1958C>G
ENST00000528807.2:n.339C>G
ENST00000530040.2:n.479+380C>G
ENST00000533371.6:c.-47C>G	ENSP00000437066.1:n.-47C>G
ENST00000534644.6:n.631C>G
ENST00000642892.1:c.-47C>G	ENSP00000494165.1:n.-47C>G
ENST00000643439.1:c.*423C>G	ENSP00000495849.1:n.*423C>G
ENST00000643479.1:n.712C>G
ENST00000643516.1:c.395+322C>G
ENST00000644151.1:n.2122C>G
ENST00000644218.1:c.683C>G	ENSP00000493574.1:p.Ala228Gly
ENST00000644683.1:c.*136C>G	ENSP00000494085.1:n.*136C>G
ENST00000644810.1:c.404C>G	ENSP00000495895.1:p.Ala135Gly
ENST00000644831.1:n.859C>G
ENST00000644933.1:c.-47C>G	ENSP00000496133.1:n.-47C>G
ENST00000645020.1:n.1858C>G
ENST00000645285.1:c.-47C>G	ENSP00000495058.1:n.-47C>G
ENST00000645331.1:n.1049C>G
ENST00000645620.1:c.-47C>G	ENSP00000493657.1:n.-47C>G
ENST00000646777.1:n.859C>G
ENST00000647016.1:n.1163C>G
ENST00000647152.1:c.-47C>G	ENSP00000495893.1:n.-47C>G
ENST00000647209.1:c.*552C>G	ENSP00000495558.1:n.*552C>G
ENST00000647346.1:n.1703C>G
ENST00000299427.10:c.683C>G	ENSP00000299427.6:p.Ala228Gly
ENST00000436873.6:c.450+380C>G	ENSP00000398136.2:n.450+380C>G
ENST00000524788.1:n.383C>G
ENST00000528807.1:n.233C>G
ENST00000533371.5:c.-47C>G	ENSP00000437066.1:n.-47C>G
ENST00000611494.4:c.683C>G	ENSP00000484546.1:p.Ala228Gly
NM_000391.3:c.683C>G	NP_000382.3:p.Ala228Gly
NM_000391.4:c.683C>G MANE Select	NP_000382.3:p.Ala228Gly