Canonical Allele Identifier: CA379472990

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636735C>G (hg19) ; chr11:g.6615504C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615504C>G , CM000673.2:g.6615504C>G	GRCh38
NC_000011.9:g.6636735C>G , CM000673.1:g.6636735C>G	GRCh37
NC_000011.8:g.6593311C>G	NCBI36
NG_008653.1:g.8958G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1090G>C	ENSP00000507321.1:p.Glu364Gln
ENST00000299427.12:c.1204G>C MANE Select	ENSP00000299427.6:p.Glu402Gln
ENST00000436873.7:c.441G>C
ENST00000524924.2:n.324G>C
ENST00000533371.6:c.475G>C	ENSP00000437066.1:p.Glu159Gln
ENST00000642892.1:c.475G>C	ENSP00000494165.1:p.Glu159Gln
ENST00000643342.1:c.277G>C
ENST00000643439.1:c.*944G>C	ENSP00000495849.1:n.*944G>C
ENST00000643479.1:n.1390G>C
ENST00000643516.1:c.713G>C
ENST00000644218.1:c.1015G>C	ENSP00000493574.1:p.Glu339Gln
ENST00000644683.1:c.*657G>C	ENSP00000494085.1:n.*657G>C
ENST00000644810.1:c.925G>C	ENSP00000495895.1:p.Glu309Gln
ENST00000644831.1:n.1380G>C
ENST00000644933.1:c.*70G>C	ENSP00000496133.1:n.*70G>C
ENST00000645285.1:c.*70G>C	ENSP00000495058.1:n.*70G>C
ENST00000645331.1:n.2409G>C
ENST00000645620.1:c.475G>C	ENSP00000493657.1:p.Glu159Gln
ENST00000646691.1:n.979G>C
ENST00000646777.1:n.1537G>C
ENST00000647016.1:n.1684G>C
ENST00000647152.1:c.475G>C	ENSP00000495893.1:p.Glu159Gln
ENST00000647209.1:c.*1073G>C	ENSP00000495558.1:n.*1073G>C
ENST00000647346.1:n.2224G>C
ENST00000299427.10:c.1204G>C	ENSP00000299427.6:p.Glu402Gln
ENST00000524924.1:n.159G>C
ENST00000532191.1:n.257G>C
ENST00000533371.5:c.475G>C	ENSP00000437066.1:p.Glu159Gln
ENST00000611494.4:c.1204G>C	ENSP00000484546.1:p.Glu402Gln
NM_000391.3:c.1204G>C	NP_000382.3:p.Glu402Gln
NM_000391.4:c.1204G>C MANE Select	NP_000382.3:p.Glu402Gln