Canonical Allele Identifier: CA379475182

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616816A>G , CM000673.2:g.6616816A>G	GRCh38
NC_000011.9:g.6638047A>G , CM000673.1:g.6638047A>G	GRCh37
NC_000011.8:g.6594623A>G	NCBI36
NG_008653.1:g.7646T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000391.4:c.731T>C MANE Select	NP_000382.3:p.Met244Thr
ENST00000299427.12:c.731T>C MANE Select	ENSP00000299427.6:p.Met244Thr
NM_000391.3:c.731T>C	NP_000382.3:p.Met244Thr
ENST00000299427.10:c.731T>C	ENSP00000299427.6:p.Met244Thr
ENST00000436873.6:c.451-313T>C	ENSP00000398136.2:n.451-313T>C
ENST00000436873.7:c.312+485T>C
ENST00000524788.1:n.431T>C
ENST00000524788.2:n.1890T>C
ENST00000524903.2:n.2006T>C
ENST00000528807.1:n.281T>C
ENST00000528807.2:n.387T>C
ENST00000530040.2:n.480-313T>C
ENST00000533371.5:c.2T>C	ENSP00000437066.1:p.Met1Thr
ENST00000533371.6:c.2T>C	ENSP00000437066.1:p.Met1Thr
ENST00000611494.4:c.731T>C	ENSP00000484546.1:p.Met244Thr
ENST00000642892.1:c.2T>C	ENSP00000494165.1:p.Met1Thr
ENST00000643439.1:c.*471T>C	ENSP00000495849.1:n.*471T>C
ENST00000643479.1:n.760T>C
ENST00000643516.1:c.396-313T>C
ENST00000644151.1:n.2170T>C
ENST00000644218.1:c.731T>C	ENSP00000493574.1:p.Met244Thr
ENST00000644683.1:c.*184T>C	ENSP00000494085.1:n.*184T>C
ENST00000644810.1:c.452T>C	ENSP00000495895.1:p.Met151Thr
ENST00000644831.1:n.907T>C
ENST00000644933.1:c.2T>C	ENSP00000496133.1:p.Met1Thr
ENST00000645020.1:n.2021T>C
ENST00000645285.1:c.2T>C	ENSP00000495058.1:p.Met1Thr
ENST00000645331.1:n.1097T>C
ENST00000645620.1:c.2T>C	ENSP00000493657.1:p.Met1Thr
ENST00000646777.1:n.907T>C
ENST00000647016.1:n.1211T>C
ENST00000647152.1:c.2T>C	ENSP00000495893.1:p.Met1Thr
ENST00000647209.1:c.*600T>C	ENSP00000495558.1:n.*600T>C
ENST00000647346.1:n.1751T>C
ENST00000682424.1:c.617T>C	ENSP00000507321.1:p.Met206Thr