Canonical Allele Identifier: CA379476147

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638866A>C (hg19) ; chr11:g.6617635A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617635A>C , CM000673.2:g.6617635A>C	GRCh38
NC_000011.9:g.6638866A>C , CM000673.1:g.6638866A>C	GRCh37
NC_000011.8:g.6595442A>C	NCBI36
NG_008653.1:g.6827T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.257T>G	ENSP00000507321.1:p.Leu86Arg
ENST00000299427.12:c.371T>G MANE Select	ENSP00000299427.6:p.Leu124Arg
ENST00000428886.7:n.459T>G
ENST00000436873.7:c.175T>G
ENST00000524788.2:n.1383T>G
ENST00000524903.2:n.1499T>G
ENST00000528571.6:c.*111T>G	ENSP00000434647.1:n.*111T>G
ENST00000530040.2:n.400T>G
ENST00000533371.6:c.-359T>G	ENSP00000437066.1:n.-359T>G
ENST00000534644.6:n.372T>G
ENST00000642892.1:c.-306T>G	ENSP00000494165.1:n.-306T>G
ENST00000643439.1:c.*111T>G	ENSP00000495849.1:n.*111T>G
ENST00000643479.1:n.400T>G
ENST00000643516.1:c.258T>G
ENST00000644151.1:n.1663T>G
ENST00000644218.1:c.371T>G	ENSP00000493574.1:p.Leu124Arg
ENST00000644683.1:c.371T>G	ENSP00000494085.1:p.Leu124Arg
ENST00000644810.1:c.230-482T>G	ENSP00000495895.1:n.230-482T>G
ENST00000644831.1:n.400T>G
ENST00000644933.1:c.-359T>G	ENSP00000496133.1:n.-359T>G
ENST00000645020.1:n.1399T>G
ENST00000645285.1:c.-359T>G	ENSP00000495058.1:n.-359T>G
ENST00000645331.1:n.393T>G
ENST00000645620.1:c.-301T>G	ENSP00000493657.1:n.-301T>G
ENST00000646777.1:n.400T>G
ENST00000647016.1:n.704T>G
ENST00000647152.1:c.-359T>G	ENSP00000495893.1:n.-359T>G
ENST00000647209.1:c.*240T>G	ENSP00000495558.1:n.*240T>G
ENST00000647346.1:n.1391T>G
ENST00000299427.10:c.371T>G	ENSP00000299427.6:p.Leu124Arg
ENST00000428886.6:n.393T>G
ENST00000436873.6:c.371T>G	ENSP00000398136.2:p.Leu124Arg
ENST00000528571.5:c.*111T>G	ENSP00000434647.1:n.*111T>G
ENST00000530040.1:n.483T>G
ENST00000533371.5:c.-359T>G	ENSP00000437066.1:n.-359T>G
ENST00000534644.5:n.356T>G
ENST00000611494.4:c.371T>G	ENSP00000484546.1:p.Leu124Arg
NM_000391.3:c.371T>G	NP_000382.3:p.Leu124Arg
NM_000391.4:c.371T>G MANE Select	NP_000382.3:p.Leu124Arg