Canonical Allele Identifier: CA379475655

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638384A>T (hg19) ; chr11:g.6617153A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617153A>T , CM000673.2:g.6617153A>T	GRCh38
NC_000011.9:g.6638384A>T , CM000673.1:g.6638384A>T	GRCh37
NC_000011.8:g.6594960A>T	NCBI36
NG_008653.1:g.7309T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.395T>A	ENSP00000507321.1:p.Val132Glu
ENST00000299427.12:c.509T>A MANE Select	ENSP00000299427.6:p.Val170Glu
ENST00000428886.7:n.744T>A
ENST00000436873.7:c.312+148T>A
ENST00000524788.2:n.1668T>A
ENST00000524903.2:n.1784T>A
ENST00000528807.2:n.165T>A
ENST00000530040.2:n.479+206T>A
ENST00000533371.6:c.-221T>A	ENSP00000437066.1:n.-221T>A
ENST00000534644.6:n.457T>A
ENST00000642892.1:c.-221T>A	ENSP00000494165.1:n.-221T>A
ENST00000643439.1:c.*249T>A	ENSP00000495849.1:n.*249T>A
ENST00000643479.1:n.538T>A
ENST00000643516.1:c.395+148T>A
ENST00000644151.1:n.1948T>A
ENST00000644218.1:c.509T>A	ENSP00000493574.1:p.Val170Glu
ENST00000644683.1:c.451T>A	ENSP00000494085.1:p.Trp151Arg
ENST00000644810.1:c.230T>A	ENSP00000495895.1:p.Val77Glu
ENST00000644831.1:n.685T>A
ENST00000644933.1:c.-221T>A	ENSP00000496133.1:n.-221T>A
ENST00000645020.1:n.1684T>A
ENST00000645285.1:c.-221T>A	ENSP00000495058.1:n.-221T>A
ENST00000645331.1:n.875T>A
ENST00000645620.1:c.-221T>A	ENSP00000493657.1:n.-221T>A
ENST00000646777.1:n.685T>A
ENST00000647016.1:n.989T>A
ENST00000647152.1:c.-221T>A	ENSP00000495893.1:n.-221T>A
ENST00000647209.1:c.*378T>A	ENSP00000495558.1:n.*378T>A
ENST00000647346.1:n.1529T>A
ENST00000299427.10:c.509T>A	ENSP00000299427.6:p.Val170Glu
ENST00000428886.6:n.678T>A
ENST00000436873.6:c.450+206T>A	ENSP00000398136.2:n.450+206T>A
ENST00000524788.1:n.209T>A
ENST00000528571.5:c.*249T>A	ENSP00000434647.1:n.*249T>A
ENST00000528807.1:n.59T>A
ENST00000533371.5:c.-221T>A	ENSP00000437066.1:n.-221T>A
ENST00000534644.5:n.494T>A
ENST00000611494.4:c.509T>A	ENSP00000484546.1:p.Val170Glu
NM_000391.3:c.509T>A	NP_000382.3:p.Val170Glu
NM_000391.4:c.509T>A MANE Select	NP_000382.3:p.Val170Glu