Canonical Allele Identifier: CA379475792

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638574G>T (hg19) ; chr11:g.6617343G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617343G>T , CM000673.2:g.6617343G>T	GRCh38
NC_000011.9:g.6638574G>T , CM000673.1:g.6638574G>T	GRCh37
NC_000011.8:g.6595150G>T	NCBI36
NG_008653.1:g.7119C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.352C>A	ENSP00000507321.1:p.Pro118Thr
ENST00000299427.12:c.466C>A MANE Select	ENSP00000299427.6:p.Pro156Thr
ENST00000428886.7:n.554C>A
ENST00000436873.7:c.270C>A
ENST00000524788.2:n.1478C>A
ENST00000524903.2:n.1594C>A
ENST00000528571.6:c.*206C>A	ENSP00000434647.1:n.*206C>A
ENST00000528807.2:n.122C>A
ENST00000530040.2:n.479+16C>A
ENST00000533371.6:c.-264C>A	ENSP00000437066.1:n.-264C>A
ENST00000534644.6:n.456+11C>A
ENST00000642892.1:c.-222+11C>A	ENSP00000494165.1:n.-222+11C>A
ENST00000643439.1:c.*206C>A	ENSP00000495849.1:n.*206C>A
ENST00000643479.1:n.495C>A
ENST00000643516.1:c.353C>A
ENST00000644151.1:n.1758C>A
ENST00000644218.1:c.466C>A	ENSP00000493574.1:p.Pro156Thr
ENST00000644683.1:c.450+16C>A	ENSP00000494085.1:n.450+16C>A
ENST00000644810.1:c.230-190C>A	ENSP00000495895.1:n.230-190C>A
ENST00000644831.1:n.495C>A
ENST00000644933.1:c.-264C>A	ENSP00000496133.1:n.-264C>A
ENST00000645020.1:n.1494C>A
ENST00000645285.1:c.-264C>A	ENSP00000495058.1:n.-264C>A
ENST00000645331.1:n.685C>A
ENST00000645620.1:c.-222+16C>A	ENSP00000493657.1:n.-222+16C>A
ENST00000646777.1:n.495C>A
ENST00000647016.1:n.799C>A
ENST00000647152.1:c.-264C>A	ENSP00000495893.1:n.-264C>A
ENST00000647209.1:c.*335C>A	ENSP00000495558.1:n.*335C>A
ENST00000647346.1:n.1486C>A
ENST00000299427.10:c.466C>A	ENSP00000299427.6:p.Pro156Thr
ENST00000428886.6:n.488C>A
ENST00000436873.6:c.450+16C>A	ENSP00000398136.2:n.450+16C>A
ENST00000524788.1:n.19C>A
ENST00000528571.5:c.*206C>A	ENSP00000434647.1:n.*206C>A
ENST00000533371.5:c.-264C>A	ENSP00000437066.1:n.-264C>A
ENST00000534644.5:n.451C>A
ENST00000611494.4:c.466C>A	ENSP00000484546.1:p.Pro156Thr
NM_000391.3:c.466C>A	NP_000382.3:p.Pro156Thr
NM_000391.4:c.466C>A MANE Select	NP_000382.3:p.Pro156Thr