Canonical Allele Identifier: CA379476013

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638634C>A (hg19) ; chr11:g.6617403C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617403C>A , CM000673.2:g.6617403C>A	GRCh38
NC_000011.9:g.6638634C>A , CM000673.1:g.6638634C>A	GRCh37
NC_000011.8:g.6595210C>A	NCBI36
NG_008653.1:g.7059G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.292G>T	ENSP00000507321.1:p.Ala98Ser
ENST00000299427.12:c.406G>T MANE Select	ENSP00000299427.6:p.Ala136Ser
ENST00000428886.7:n.494G>T
ENST00000436873.7:c.210G>T
ENST00000524788.2:n.1418G>T
ENST00000524903.2:n.1534G>T
ENST00000528571.6:c.*146G>T	ENSP00000434647.1:n.*146G>T
ENST00000528807.2:n.62G>T
ENST00000530040.2:n.435G>T
ENST00000533371.6:c.-324G>T	ENSP00000437066.1:n.-324G>T
ENST00000534644.6:n.407G>T
ENST00000642892.1:c.-271G>T	ENSP00000494165.1:n.-271G>T
ENST00000643439.1:c.*146G>T	ENSP00000495849.1:n.*146G>T
ENST00000643479.1:n.435G>T
ENST00000643516.1:c.293G>T
ENST00000644151.1:n.1698G>T
ENST00000644218.1:c.406G>T	ENSP00000493574.1:p.Ala136Ser
ENST00000644683.1:c.406G>T	ENSP00000494085.1:p.Ala136Ser
ENST00000644810.1:c.230-250G>T	ENSP00000495895.1:n.230-250G>T
ENST00000644831.1:n.435G>T
ENST00000644933.1:c.-324G>T	ENSP00000496133.1:n.-324G>T
ENST00000645020.1:n.1434G>T
ENST00000645285.1:c.-324G>T	ENSP00000495058.1:n.-324G>T
ENST00000645331.1:n.625G>T
ENST00000645620.1:c.-266G>T	ENSP00000493657.1:n.-266G>T
ENST00000646777.1:n.435G>T
ENST00000647016.1:n.739G>T
ENST00000647152.1:c.-324G>T	ENSP00000495893.1:n.-324G>T
ENST00000647209.1:c.*275G>T	ENSP00000495558.1:n.*275G>T
ENST00000647346.1:n.1426G>T
ENST00000299427.10:c.406G>T	ENSP00000299427.6:p.Ala136Ser
ENST00000428886.6:n.428G>T
ENST00000436873.6:c.406G>T	ENSP00000398136.2:p.Ala136Ser
ENST00000528571.5:c.*146G>T	ENSP00000434647.1:n.*146G>T
ENST00000530040.1:n.518G>T
ENST00000533371.5:c.-324G>T	ENSP00000437066.1:n.-324G>T
ENST00000534644.5:n.391G>T
ENST00000611494.4:c.406G>T	ENSP00000484546.1:p.Ala136Ser
NM_000391.3:c.406G>T	NP_000382.3:p.Ala136Ser
NM_000391.4:c.406G>T MANE Select	NP_000382.3:p.Ala136Ser