Canonical Allele Identifier: CA472923056

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638979A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617748A>G , CM000673.2:g.6617748A>G	GRCh38
NC_000011.9:g.6638979A>G , CM000673.1:g.6638979A>G	GRCh37
NC_000011.8:g.6595555A>G	NCBI36
NG_008653.1:g.6714T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.144T>C	ENSP00000507321.1:p.Ala48=
ENST00000299427.12:c.258T>C MANE Select	ENSP00000299427.6:p.Ala86=
ENST00000428886.7:n.346T>C
ENST00000436873.7:c.62T>C
ENST00000524788.2:n.1270T>C
ENST00000524903.2:n.1386T>C
ENST00000528571.6:c.118T>C	ENSP00000434647.1:p.Ter40Arg
ENST00000530040.2:n.287T>C
ENST00000533371.6:c.-472T>C	ENSP00000437066.1:n.-472T>C
ENST00000534644.6:n.259T>C
ENST00000642892.1:c.-419T>C	ENSP00000494165.1:n.-419T>C
ENST00000643439.1:c.118T>C	ENSP00000495849.1:p.Ter40Arg
ENST00000643479.1:n.287T>C
ENST00000643516.1:c.145T>C
ENST00000644151.1:n.1550T>C
ENST00000644218.1:c.258T>C	ENSP00000493574.1:p.Ala86=
ENST00000644683.1:c.258T>C	ENSP00000494085.1:p.Ala86=
ENST00000644810.1:c.230-595T>C	ENSP00000495895.1:n.230-595T>C
ENST00000644831.1:n.287T>C
ENST00000644933.1:c.-472T>C	ENSP00000496133.1:n.-472T>C
ENST00000645020.1:n.1286T>C
ENST00000645285.1:c.-472T>C	ENSP00000495058.1:n.-472T>C
ENST00000645331.1:n.280T>C
ENST00000645620.1:c.-414T>C	ENSP00000493657.1:n.-414T>C
ENST00000646777.1:n.287T>C
ENST00000647016.1:n.591T>C
ENST00000647152.1:c.-472T>C	ENSP00000495893.1:n.-472T>C
ENST00000647209.1:c.*127T>C	ENSP00000495558.1:n.*127T>C
ENST00000647346.1:n.1278T>C
ENST00000299427.10:c.258T>C	ENSP00000299427.6:p.Ala86=
ENST00000428886.6:n.280T>C
ENST00000436873.6:c.258T>C	ENSP00000398136.2:p.Ala86=
ENST00000528571.5:c.118T>C	ENSP00000434647.1:p.Ter40Arg
ENST00000528917.1:n.559T>C
ENST00000530040.1:n.370T>C
ENST00000533371.5:c.-472T>C	ENSP00000437066.1:n.-472T>C
ENST00000534644.5:n.243T>C
ENST00000611494.4:c.258T>C	ENSP00000484546.1:p.Ala86=
NM_000391.3:c.258T>C	NP_000382.3:p.Ala86=
NM_000391.4:c.258T>C MANE Select	NP_000382.3:p.Ala86=