Canonical Allele Identifier: CA379472520

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636409C>T (hg19) ; chr11:g.6615178C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615178C>T , CM000673.2:g.6615178C>T	GRCh38
NC_000011.9:g.6636409C>T , CM000673.1:g.6636409C>T	GRCh37
NC_000011.8:g.6592985C>T	NCBI36
NG_008653.1:g.9284G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1304G>A	ENSP00000507321.1:p.Gly435Glu
ENST00000299427.12:c.1418G>A MANE Select	ENSP00000299427.6:p.Gly473Glu
ENST00000524611.2:n.278G>A
ENST00000524924.2:n.538G>A
ENST00000533371.6:c.689G>A	ENSP00000437066.1:p.Gly230Glu
ENST00000642892.1:c.689G>A	ENSP00000494165.1:p.Gly230Glu
ENST00000643342.1:c.491G>A
ENST00000643439.1:c.*1158G>A	ENSP00000495849.1:n.*1158G>A
ENST00000643479.1:n.1604G>A
ENST00000643516.1:c.927G>A
ENST00000644218.1:c.1229G>A	ENSP00000493574.1:p.Gly410Glu
ENST00000644683.1:c.*871G>A	ENSP00000494085.1:n.*871G>A
ENST00000644810.1:c.1139G>A	ENSP00000495895.1:p.Gly380Glu
ENST00000644831.1:n.1594G>A
ENST00000644933.1:c.*284G>A	ENSP00000496133.1:n.*284G>A
ENST00000645285.1:c.*284G>A	ENSP00000495058.1:n.*284G>A
ENST00000645331.1:n.2623G>A
ENST00000645620.1:c.689G>A	ENSP00000493657.1:p.Gly230Glu
ENST00000646691.1:n.1305G>A
ENST00000646777.1:n.1751G>A
ENST00000647016.1:n.1898G>A
ENST00000647152.1:c.689G>A	ENSP00000495893.1:p.Gly230Glu
ENST00000647209.1:c.*1287G>A	ENSP00000495558.1:n.*1287G>A
ENST00000647346.1:n.2438G>A
ENST00000299427.10:c.1418G>A	ENSP00000299427.6:p.Gly473Glu
ENST00000524611.1:n.296G>A
ENST00000533371.5:c.689G>A	ENSP00000437066.1:p.Gly230Glu
ENST00000611494.4:c.1418G>A	ENSP00000484546.1:p.Gly473Glu
NM_000391.3:c.1418G>A	NP_000382.3:p.Gly473Glu
NM_000391.4:c.1418G>A MANE Select	NP_000382.3:p.Gly473Glu