Canonical Allele Identifier: CA379476024

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638639G>A (hg19) ; chr11:g.6617408G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617408G>A , CM000673.2:g.6617408G>A	GRCh38
NC_000011.9:g.6638639G>A , CM000673.1:g.6638639G>A	GRCh37
NC_000011.8:g.6595215G>A	NCBI36
NG_008653.1:g.7054C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.287C>T	ENSP00000507321.1:p.Pro96Leu
ENST00000299427.12:c.401C>T MANE Select	ENSP00000299427.6:p.Pro134Leu
ENST00000428886.7:n.489C>T
ENST00000436873.7:c.205C>T
ENST00000524788.2:n.1413C>T
ENST00000524903.2:n.1529C>T
ENST00000528571.6:c.*141C>T	ENSP00000434647.1:n.*141C>T
ENST00000528807.2:n.57C>T
ENST00000530040.2:n.430C>T
ENST00000533371.6:c.-329C>T	ENSP00000437066.1:n.-329C>T
ENST00000534644.6:n.402C>T
ENST00000642892.1:c.-276C>T	ENSP00000494165.1:n.-276C>T
ENST00000643439.1:c.*141C>T	ENSP00000495849.1:n.*141C>T
ENST00000643479.1:n.430C>T
ENST00000643516.1:c.288C>T
ENST00000644151.1:n.1693C>T
ENST00000644218.1:c.401C>T	ENSP00000493574.1:p.Pro134Leu
ENST00000644683.1:c.401C>T	ENSP00000494085.1:p.Pro134Leu
ENST00000644810.1:c.230-255C>T	ENSP00000495895.1:n.230-255C>T
ENST00000644831.1:n.430C>T
ENST00000644933.1:c.-329C>T	ENSP00000496133.1:n.-329C>T
ENST00000645020.1:n.1429C>T
ENST00000645285.1:c.-329C>T	ENSP00000495058.1:n.-329C>T
ENST00000645331.1:n.620C>T
ENST00000645620.1:c.-271C>T	ENSP00000493657.1:n.-271C>T
ENST00000646777.1:n.430C>T
ENST00000647016.1:n.734C>T
ENST00000647152.1:c.-329C>T	ENSP00000495893.1:n.-329C>T
ENST00000647209.1:c.*270C>T	ENSP00000495558.1:n.*270C>T
ENST00000647346.1:n.1421C>T
ENST00000299427.10:c.401C>T	ENSP00000299427.6:p.Pro134Leu
ENST00000428886.6:n.423C>T
ENST00000436873.6:c.401C>T	ENSP00000398136.2:p.Pro134Leu
ENST00000528571.5:c.*141C>T	ENSP00000434647.1:n.*141C>T
ENST00000530040.1:n.513C>T
ENST00000533371.5:c.-329C>T	ENSP00000437066.1:n.-329C>T
ENST00000534644.5:n.386C>T
ENST00000611494.4:c.401C>T	ENSP00000484546.1:p.Pro134Leu
NM_000391.3:c.401C>T	NP_000382.3:p.Pro134Leu
NM_000391.4:c.401C>T MANE Select	NP_000382.3:p.Pro134Leu