Canonical Allele Identifier: CA379476568

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638983A>C (hg19) ; chr11:g.6617752A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617752A>C , CM000673.2:g.6617752A>C	GRCh38
NC_000011.9:g.6638983A>C , CM000673.1:g.6638983A>C	GRCh37
NC_000011.8:g.6595559A>C	NCBI36
NG_008653.1:g.6710T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.140T>G	ENSP00000507321.1:p.Val47Gly
ENST00000299427.12:c.254T>G MANE Select	ENSP00000299427.6:p.Val85Gly
ENST00000428886.7:n.342T>G
ENST00000436873.7:c.58T>G
ENST00000524788.2:n.1266T>G
ENST00000524903.2:n.1382T>G
ENST00000528571.6:c.114T>G	ENSP00000434647.1:p.Cys38Trp
ENST00000530040.2:n.283T>G
ENST00000533371.6:c.-476T>G	ENSP00000437066.1:n.-476T>G
ENST00000534644.6:n.255T>G
ENST00000642892.1:c.-423T>G	ENSP00000494165.1:n.-423T>G
ENST00000643439.1:c.114T>G	ENSP00000495849.1:p.Cys38Trp
ENST00000643479.1:n.283T>G
ENST00000643516.1:c.141T>G
ENST00000644151.1:n.1546T>G
ENST00000644218.1:c.254T>G	ENSP00000493574.1:p.Val85Gly
ENST00000644683.1:c.254T>G	ENSP00000494085.1:p.Val85Gly
ENST00000644810.1:c.230-599T>G	ENSP00000495895.1:n.230-599T>G
ENST00000644831.1:n.283T>G
ENST00000644933.1:c.-476T>G	ENSP00000496133.1:n.-476T>G
ENST00000645020.1:n.1282T>G
ENST00000645285.1:c.-476T>G	ENSP00000495058.1:n.-476T>G
ENST00000645331.1:n.276T>G
ENST00000645620.1:c.-418T>G	ENSP00000493657.1:n.-418T>G
ENST00000646777.1:n.283T>G
ENST00000647016.1:n.587T>G
ENST00000647152.1:c.-476T>G	ENSP00000495893.1:n.-476T>G
ENST00000647209.1:c.*123T>G	ENSP00000495558.1:n.*123T>G
ENST00000647346.1:n.1274T>G
ENST00000299427.10:c.254T>G	ENSP00000299427.6:p.Val85Gly
ENST00000428886.6:n.276T>G
ENST00000436873.6:c.254T>G	ENSP00000398136.2:p.Val85Gly
ENST00000528571.5:c.114T>G	ENSP00000434647.1:p.Cys38Trp
ENST00000528917.1:n.555T>G
ENST00000530040.1:n.366T>G
ENST00000533371.5:c.-476T>G	ENSP00000437066.1:n.-476T>G
ENST00000534644.5:n.239T>G
ENST00000611494.4:c.254T>G	ENSP00000484546.1:p.Val85Gly
NM_000391.3:c.254T>G	NP_000382.3:p.Val85Gly
NM_000391.4:c.254T>G MANE Select	NP_000382.3:p.Val85Gly