Canonical Allele Identifier: CA379476080

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638657T>G (hg19) ; chr11:g.6617426T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617426T>G , CM000673.2:g.6617426T>G	GRCh38
NC_000011.9:g.6638657T>G , CM000673.1:g.6638657T>G	GRCh37
NC_000011.8:g.6595233T>G	NCBI36
NG_008653.1:g.7036A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.269A>C	ENSP00000507321.1:p.Gln90Pro
ENST00000299427.12:c.383A>C MANE Select	ENSP00000299427.6:p.Gln128Pro
ENST00000428886.7:n.471A>C
ENST00000436873.7:c.187A>C
ENST00000524788.2:n.1395A>C
ENST00000524903.2:n.1511A>C
ENST00000528571.6:c.*123A>C	ENSP00000434647.1:n.*123A>C
ENST00000528807.2:n.39A>C
ENST00000530040.2:n.412A>C
ENST00000533371.6:c.-347A>C	ENSP00000437066.1:n.-347A>C
ENST00000534644.6:n.384A>C
ENST00000642892.1:c.-294A>C	ENSP00000494165.1:n.-294A>C
ENST00000643439.1:c.*123A>C	ENSP00000495849.1:n.*123A>C
ENST00000643479.1:n.412A>C
ENST00000643516.1:c.270A>C
ENST00000644151.1:n.1675A>C
ENST00000644218.1:c.383A>C	ENSP00000493574.1:p.Gln128Pro
ENST00000644683.1:c.383A>C	ENSP00000494085.1:p.Gln128Pro
ENST00000644810.1:c.230-273A>C	ENSP00000495895.1:n.230-273A>C
ENST00000644831.1:n.412A>C
ENST00000644933.1:c.-347A>C	ENSP00000496133.1:n.-347A>C
ENST00000645020.1:n.1411A>C
ENST00000645285.1:c.-347A>C	ENSP00000495058.1:n.-347A>C
ENST00000645331.1:n.602A>C
ENST00000645620.1:c.-289A>C	ENSP00000493657.1:n.-289A>C
ENST00000646777.1:n.412A>C
ENST00000647016.1:n.716A>C
ENST00000647152.1:c.-347A>C	ENSP00000495893.1:n.-347A>C
ENST00000647209.1:c.*252A>C	ENSP00000495558.1:n.*252A>C
ENST00000647346.1:n.1403A>C
ENST00000299427.10:c.383A>C	ENSP00000299427.6:p.Gln128Pro
ENST00000428886.6:n.405A>C
ENST00000436873.6:c.383A>C	ENSP00000398136.2:p.Gln128Pro
ENST00000528571.5:c.*123A>C	ENSP00000434647.1:n.*123A>C
ENST00000530040.1:n.495A>C
ENST00000533371.5:c.-347A>C	ENSP00000437066.1:n.-347A>C
ENST00000534644.5:n.368A>C
ENST00000611494.4:c.383A>C	ENSP00000484546.1:p.Gln128Pro
NM_000391.3:c.383A>C	NP_000382.3:p.Gln128Pro
NM_000391.4:c.383A>C MANE Select	NP_000382.3:p.Gln128Pro