Canonical Allele Identifier: CA379474705

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637725T>G (hg19) ; chr11:g.6616494T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616494T>G , CM000673.2:g.6616494T>G	GRCh38
NC_000011.9:g.6637725T>G , CM000673.1:g.6637725T>G	GRCh37
NC_000011.8:g.6594301T>G	NCBI36
NG_008653.1:g.7968A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.782A>C	ENSP00000507321.1:p.Glu261Ala
ENST00000299427.12:c.896A>C MANE Select	ENSP00000299427.6:p.Glu299Ala
ENST00000436873.7:c.313-420A>C
ENST00000530040.2:n.489A>C
ENST00000533371.6:c.167A>C	ENSP00000437066.1:p.Glu56Ala
ENST00000642892.1:c.167A>C	ENSP00000494165.1:p.Glu56Ala
ENST00000643439.1:c.*636A>C	ENSP00000495849.1:n.*636A>C
ENST00000643479.1:n.1082A>C
ENST00000643516.1:c.405A>C
ENST00000644218.1:c.886+167A>C	ENSP00000493574.1:n.886+167A>C
ENST00000644683.1:c.*349A>C	ENSP00000494085.1:n.*349A>C
ENST00000644810.1:c.617A>C	ENSP00000495895.1:p.Glu206Ala
ENST00000644831.1:n.1072A>C
ENST00000644933.1:c.167A>C	ENSP00000496133.1:p.Glu56Ala
ENST00000645285.1:c.157+167A>C	ENSP00000495058.1:n.157+167A>C
ENST00000645331.1:n.1419A>C
ENST00000645620.1:c.167A>C	ENSP00000493657.1:p.Glu56Ala
ENST00000646777.1:n.1229A>C
ENST00000647016.1:n.1376A>C
ENST00000647152.1:c.167A>C	ENSP00000495893.1:p.Glu56Ala
ENST00000647209.1:c.*765A>C	ENSP00000495558.1:n.*765A>C
ENST00000647346.1:n.1916A>C
ENST00000299427.10:c.896A>C	ENSP00000299427.6:p.Glu299Ala
ENST00000436873.6:c.460A>C	ENSP00000398136.2:p.Arg154=
ENST00000533371.5:c.167A>C	ENSP00000437066.1:p.Glu56Ala
ENST00000611494.4:c.896A>C	ENSP00000484546.1:p.Glu299Ala
NM_000391.3:c.896A>C	NP_000382.3:p.Glu299Ala
NM_000391.4:c.896A>C MANE Select	NP_000382.3:p.Glu299Ala