Canonical Allele Identifier: CA379472110

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635863A>G (hg19) ; chr11:g.6614632A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614632A>G , CM000673.2:g.6614632A>G	GRCh38
NC_000011.9:g.6635863A>G , CM000673.1:g.6635863A>G	GRCh37
NC_000011.8:g.6592439A>G	NCBI36
NG_008653.1:g.9830T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1492T>C	ENSP00000507321.1:p.Phe498Leu
ENST00000299427.12:c.1606T>C MANE Select	ENSP00000299427.6:p.Phe536Leu
ENST00000524611.2:n.645T>C
ENST00000524924.2:n.726T>C
ENST00000533371.6:c.877T>C	ENSP00000437066.1:p.Phe293Leu
ENST00000642892.1:c.877T>C	ENSP00000494165.1:p.Phe293Leu
ENST00000643342.1:c.679T>C
ENST00000643439.1:c.*1346T>C	ENSP00000495849.1:n.*1346T>C
ENST00000643479.1:n.1792T>C
ENST00000643516.1:c.1115T>C
ENST00000644218.1:c.1417T>C	ENSP00000493574.1:p.Phe473Leu
ENST00000644683.1:c.*1059T>C	ENSP00000494085.1:n.*1059T>C
ENST00000644810.1:c.1327T>C	ENSP00000495895.1:p.Phe443Leu
ENST00000644831.1:n.1782T>C
ENST00000644933.1:c.*472T>C	ENSP00000496133.1:n.*472T>C
ENST00000645285.1:c.*472T>C	ENSP00000495058.1:n.*472T>C
ENST00000645331.1:n.2811T>C
ENST00000645620.1:c.877T>C	ENSP00000493657.1:p.Phe293Leu
ENST00000646691.1:n.1493T>C
ENST00000646777.1:n.1939T>C
ENST00000647016.1:n.2086T>C
ENST00000647152.1:c.877T>C	ENSP00000495893.1:p.Phe293Leu
ENST00000647209.1:c.*1475T>C	ENSP00000495558.1:n.*1475T>C
ENST00000647346.1:n.2626T>C
ENST00000299427.10:c.1606T>C	ENSP00000299427.6:p.Phe536Leu
ENST00000533371.5:c.877T>C	ENSP00000437066.1:p.Phe293Leu
ENST00000611494.4:c.1606T>C	ENSP00000484546.1:p.Phe536Leu
NM_000391.3:c.1606T>C	NP_000382.3:p.Phe536Leu
NM_000391.4:c.1606T>C MANE Select	NP_000382.3:p.Phe536Leu