Canonical Allele Identifier: CA472923025

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2696826
• ClinVar RCV Id: RCV003543661
• MyVariant Identifiers: chr11:g.6638952G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617721G>A , CM000673.2:g.6617721G>A	GRCh38
NC_000011.9:g.6638952G>A , CM000673.1:g.6638952G>A	GRCh37
NC_000011.8:g.6595528G>A	NCBI36
NG_008653.1:g.6741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.171C>T	ENSP00000507321.1:p.Thr57=
ENST00000299427.12:c.285C>T MANE Select	ENSP00000299427.6:p.Thr95=
ENST00000428886.7:n.373C>T
ENST00000436873.7:c.89C>T
ENST00000524788.2:n.1297C>T
ENST00000524903.2:n.1413C>T
ENST00000528571.6:c.*25C>T	ENSP00000434647.1:n.*25C>T
ENST00000530040.2:n.314C>T
ENST00000533371.6:c.-445C>T	ENSP00000437066.1:n.-445C>T
ENST00000534644.6:n.286C>T
ENST00000642892.1:c.-392C>T	ENSP00000494165.1:n.-392C>T
ENST00000643439.1:c.*25C>T	ENSP00000495849.1:n.*25C>T
ENST00000643479.1:n.314C>T
ENST00000643516.1:c.172C>T
ENST00000644151.1:n.1577C>T
ENST00000644218.1:c.285C>T	ENSP00000493574.1:p.Thr95=
ENST00000644683.1:c.285C>T	ENSP00000494085.1:p.Thr95=
ENST00000644810.1:c.230-568C>T	ENSP00000495895.1:n.230-568C>T
ENST00000644831.1:n.314C>T
ENST00000644933.1:c.-445C>T	ENSP00000496133.1:n.-445C>T
ENST00000645020.1:n.1313C>T
ENST00000645285.1:c.-445C>T	ENSP00000495058.1:n.-445C>T
ENST00000645331.1:n.307C>T
ENST00000645620.1:c.-387C>T	ENSP00000493657.1:n.-387C>T
ENST00000646777.1:n.314C>T
ENST00000647016.1:n.618C>T
ENST00000647152.1:c.-445C>T	ENSP00000495893.1:n.-445C>T
ENST00000647209.1:c.*154C>T	ENSP00000495558.1:n.*154C>T
ENST00000647346.1:n.1305C>T
ENST00000299427.10:c.285C>T	ENSP00000299427.6:p.Thr95=
ENST00000428886.6:n.307C>T
ENST00000436873.6:c.285C>T	ENSP00000398136.2:p.Thr95=
ENST00000528571.5:c.*25C>T	ENSP00000434647.1:n.*25C>T
ENST00000530040.1:n.397C>T
ENST00000533371.5:c.-445C>T	ENSP00000437066.1:n.-445C>T
ENST00000534644.5:n.270C>T
ENST00000611494.4:c.285C>T	ENSP00000484546.1:p.Thr95=
NM_000391.3:c.285C>T	NP_000382.3:p.Thr95=
NM_000391.4:c.285C>T MANE Select	NP_000382.3:p.Thr95=