Canonical Allele Identifier: CA379472021

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635821T>G (hg19) ; chr11:g.6614590T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614590T>G , CM000673.2:g.6614590T>G	GRCh38
NC_000011.9:g.6635821T>G , CM000673.1:g.6635821T>G	GRCh37
NC_000011.8:g.6592397T>G	NCBI36
NG_008653.1:g.9872A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1534A>C	ENSP00000507321.1:p.Thr512Pro
ENST00000299427.12:c.1648A>C MANE Select	ENSP00000299427.6:p.Thr550Pro
ENST00000524611.2:n.687A>C
ENST00000533371.6:c.919A>C	ENSP00000437066.1:p.Thr307Pro
ENST00000642892.1:c.919A>C	ENSP00000494165.1:p.Thr307Pro
ENST00000643342.1:c.721A>C
ENST00000643439.1:c.*1388A>C	ENSP00000495849.1:n.*1388A>C
ENST00000643479.1:n.1834A>C
ENST00000643516.1:c.1157A>C
ENST00000644218.1:c.1459A>C	ENSP00000493574.1:p.Thr487Pro
ENST00000644683.1:c.*1101A>C	ENSP00000494085.1:n.*1101A>C
ENST00000644810.1:c.1369A>C	ENSP00000495895.1:p.Thr457Pro
ENST00000644831.1:n.1824A>C
ENST00000644933.1:c.*514A>C	ENSP00000496133.1:n.*514A>C
ENST00000645285.1:c.*514A>C	ENSP00000495058.1:n.*514A>C
ENST00000645331.1:n.2853A>C
ENST00000645620.1:c.919A>C	ENSP00000493657.1:p.Thr307Pro
ENST00000646691.1:n.1535A>C
ENST00000646777.1:n.1981A>C
ENST00000647016.1:n.2128A>C
ENST00000647152.1:c.919A>C	ENSP00000495893.1:p.Thr307Pro
ENST00000647209.1:c.*1517A>C	ENSP00000495558.1:n.*1517A>C
ENST00000647346.1:n.2668A>C
ENST00000299427.10:c.1648A>C	ENSP00000299427.6:p.Thr550Pro
ENST00000533371.5:c.919A>C	ENSP00000437066.1:p.Thr307Pro
ENST00000611494.4:c.1648A>C	ENSP00000484546.1:p.Thr550Pro
NM_000391.3:c.1648A>C	NP_000382.3:p.Thr550Pro
NM_000391.4:c.1648A>C MANE Select	NP_000382.3:p.Thr550Pro