Canonical Allele Identifier: CA379474956

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616702C>G , CM000673.2:g.6616702C>G	GRCh38
NC_000011.9:g.6637933C>G , CM000673.1:g.6637933C>G	GRCh37
NC_000011.8:g.6594509C>G	NCBI36
NG_008653.1:g.7760G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.731G>C	ENSP00000507321.1:p.Ser244Thr
ENST00000299427.12:c.845G>C MANE Select	ENSP00000299427.6:p.Ser282Thr
ENST00000436873.7:c.312+599G>C
ENST00000524788.2:n.2004G>C
ENST00000524903.2:n.2120G>C
ENST00000528807.2:n.501G>C
ENST00000530040.2:n.480-199G>C
ENST00000533371.6:c.116G>C	ENSP00000437066.1:p.Ser39Thr
ENST00000642892.1:c.116G>C	ENSP00000494165.1:p.Ser39Thr
ENST00000643439.1:c.*585G>C	ENSP00000495849.1:n.*585G>C
ENST00000643479.1:n.874G>C
ENST00000643516.1:c.396-199G>C
ENST00000644151.1:n.2284G>C
ENST00000644218.1:c.845G>C	ENSP00000493574.1:p.Ser282Thr
ENST00000644683.1:c.*298G>C	ENSP00000494085.1:n.*298G>C
ENST00000644810.1:c.566G>C	ENSP00000495895.1:p.Ser189Thr
ENST00000644831.1:n.1021G>C
ENST00000644933.1:c.116G>C	ENSP00000496133.1:p.Ser39Thr
ENST00000645020.1:n.2135G>C
ENST00000645285.1:c.116G>C	ENSP00000495058.1:p.Ser39Thr
ENST00000645331.1:n.1211G>C
ENST00000645620.1:c.116G>C	ENSP00000493657.1:p.Ser39Thr
ENST00000646777.1:n.1021G>C
ENST00000647016.1:n.1325G>C
ENST00000647152.1:c.116G>C	ENSP00000495893.1:p.Ser39Thr
ENST00000647209.1:c.*714G>C	ENSP00000495558.1:n.*714G>C
ENST00000647346.1:n.1865G>C
ENST00000299427.10:c.845G>C	ENSP00000299427.6:p.Ser282Thr
ENST00000436873.6:c.451-199G>C	ENSP00000398136.2:n.451-199G>C
ENST00000524788.1:n.545G>C
ENST00000528807.1:n.395G>C
ENST00000533371.5:c.116G>C	ENSP00000437066.1:p.Ser39Thr
ENST00000611494.4:c.845G>C	ENSP00000484546.1:p.Ser282Thr
NM_000391.3:c.845G>C	NP_000382.3:p.Ser282Thr
NM_000391.4:c.845G>C MANE Select	NP_000382.3:p.Ser282Thr