Canonical Allele Identifier: CA472922937

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638874A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617643A>G , CM000673.2:g.6617643A>G	GRCh38
NC_000011.9:g.6638874A>G , CM000673.1:g.6638874A>G	GRCh37
NC_000011.8:g.6595450A>G	NCBI36
NG_008653.1:g.6819T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.249T>C	ENSP00000507321.1:p.Thr83=
ENST00000299427.12:c.363T>C MANE Select	ENSP00000299427.6:p.Thr121=
ENST00000428886.7:n.451T>C
ENST00000436873.7:c.167T>C
ENST00000524788.2:n.1375T>C
ENST00000524903.2:n.1491T>C
ENST00000528571.6:c.*103T>C	ENSP00000434647.1:n.*103T>C
ENST00000530040.2:n.392T>C
ENST00000533371.6:c.-367T>C	ENSP00000437066.1:n.-367T>C
ENST00000534644.6:n.364T>C
ENST00000642892.1:c.-314T>C	ENSP00000494165.1:n.-314T>C
ENST00000643439.1:c.*103T>C	ENSP00000495849.1:n.*103T>C
ENST00000643479.1:n.392T>C
ENST00000643516.1:c.250T>C
ENST00000644151.1:n.1655T>C
ENST00000644218.1:c.363T>C	ENSP00000493574.1:p.Thr121=
ENST00000644683.1:c.363T>C	ENSP00000494085.1:p.Thr121=
ENST00000644810.1:c.230-490T>C	ENSP00000495895.1:n.230-490T>C
ENST00000644831.1:n.392T>C
ENST00000644933.1:c.-367T>C	ENSP00000496133.1:n.-367T>C
ENST00000645020.1:n.1391T>C
ENST00000645285.1:c.-367T>C	ENSP00000495058.1:n.-367T>C
ENST00000645331.1:n.385T>C
ENST00000645620.1:c.-309T>C	ENSP00000493657.1:n.-309T>C
ENST00000646777.1:n.392T>C
ENST00000647016.1:n.696T>C
ENST00000647152.1:c.-367T>C	ENSP00000495893.1:n.-367T>C
ENST00000647209.1:c.*232T>C	ENSP00000495558.1:n.*232T>C
ENST00000647346.1:n.1383T>C
ENST00000299427.10:c.363T>C	ENSP00000299427.6:p.Thr121=
ENST00000428886.6:n.385T>C
ENST00000436873.6:c.363T>C	ENSP00000398136.2:p.Thr121=
ENST00000528571.5:c.*103T>C	ENSP00000434647.1:n.*103T>C
ENST00000530040.1:n.475T>C
ENST00000533371.5:c.-367T>C	ENSP00000437066.1:n.-367T>C
ENST00000534644.5:n.348T>C
ENST00000611494.4:c.363T>C	ENSP00000484546.1:p.Thr121=
NM_000391.3:c.363T>C	NP_000382.3:p.Thr121=
NM_000391.4:c.363T>C MANE Select	NP_000382.3:p.Thr121=