Canonical Allele Identifier: CA379476403

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638931C>G (hg19) ; chr11:g.6617700C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617700C>G , CM000673.2:g.6617700C>G	GRCh38
NC_000011.9:g.6638931C>G , CM000673.1:g.6638931C>G	GRCh37
NC_000011.8:g.6595507C>G	NCBI36
NG_008653.1:g.6762G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.192G>C	ENSP00000507321.1:p.Trp64Cys
ENST00000299427.12:c.306G>C MANE Select	ENSP00000299427.6:p.Trp102Cys
ENST00000428886.7:n.394G>C
ENST00000436873.7:c.110G>C
ENST00000524788.2:n.1318G>C
ENST00000524903.2:n.1434G>C
ENST00000528571.6:c.*46G>C	ENSP00000434647.1:n.*46G>C
ENST00000530040.2:n.335G>C
ENST00000533371.6:c.-424G>C	ENSP00000437066.1:n.-424G>C
ENST00000534644.6:n.307G>C
ENST00000642892.1:c.-371G>C	ENSP00000494165.1:n.-371G>C
ENST00000643439.1:c.*46G>C	ENSP00000495849.1:n.*46G>C
ENST00000643479.1:n.335G>C
ENST00000643516.1:c.193G>C
ENST00000644151.1:n.1598G>C
ENST00000644218.1:c.306G>C	ENSP00000493574.1:p.Trp102Cys
ENST00000644683.1:c.306G>C	ENSP00000494085.1:p.Trp102Cys
ENST00000644810.1:c.230-547G>C	ENSP00000495895.1:n.230-547G>C
ENST00000644831.1:n.335G>C
ENST00000644933.1:c.-424G>C	ENSP00000496133.1:n.-424G>C
ENST00000645020.1:n.1334G>C
ENST00000645285.1:c.-424G>C	ENSP00000495058.1:n.-424G>C
ENST00000645331.1:n.328G>C
ENST00000645620.1:c.-366G>C	ENSP00000493657.1:n.-366G>C
ENST00000646777.1:n.335G>C
ENST00000647016.1:n.639G>C
ENST00000647152.1:c.-424G>C	ENSP00000495893.1:n.-424G>C
ENST00000647209.1:c.*175G>C	ENSP00000495558.1:n.*175G>C
ENST00000647346.1:n.1326G>C
ENST00000299427.10:c.306G>C	ENSP00000299427.6:p.Trp102Cys
ENST00000428886.6:n.328G>C
ENST00000436873.6:c.306G>C	ENSP00000398136.2:p.Trp102Cys
ENST00000528571.5:c.*46G>C	ENSP00000434647.1:n.*46G>C
ENST00000530040.1:n.418G>C
ENST00000533371.5:c.-424G>C	ENSP00000437066.1:n.-424G>C
ENST00000534644.5:n.291G>C
ENST00000611494.4:c.306G>C	ENSP00000484546.1:p.Trp102Cys
NM_000391.3:c.306G>C	NP_000382.3:p.Trp102Cys
NM_000391.4:c.306G>C MANE Select	NP_000382.3:p.Trp102Cys