Canonical Allele Identifier: CA379472148

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635881C>A (hg19) ; chr11:g.6614650C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614650C>A , CM000673.2:g.6614650C>A	GRCh38
NC_000011.9:g.6635881C>A , CM000673.1:g.6635881C>A	GRCh37
NC_000011.8:g.6592457C>A	NCBI36
NG_008653.1:g.9812G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1474G>T	ENSP00000507321.1:p.Glu492Ter
ENST00000299427.12:c.1588G>T MANE Select	ENSP00000299427.6:p.Glu530Ter
ENST00000524611.2:n.627G>T
ENST00000524924.2:n.708G>T
ENST00000533371.6:c.859G>T	ENSP00000437066.1:p.Glu287Ter
ENST00000642892.1:c.859G>T	ENSP00000494165.1:p.Glu287Ter
ENST00000643342.1:c.661G>T
ENST00000643439.1:c.*1328G>T	ENSP00000495849.1:n.*1328G>T
ENST00000643479.1:n.1774G>T
ENST00000643516.1:c.1097G>T
ENST00000644218.1:c.1399G>T	ENSP00000493574.1:p.Glu467Ter
ENST00000644683.1:c.*1041G>T	ENSP00000494085.1:n.*1041G>T
ENST00000644810.1:c.1309G>T	ENSP00000495895.1:p.Glu437Ter
ENST00000644831.1:n.1764G>T
ENST00000644933.1:c.*454G>T	ENSP00000496133.1:n.*454G>T
ENST00000645285.1:c.*454G>T	ENSP00000495058.1:n.*454G>T
ENST00000645331.1:n.2793G>T
ENST00000645620.1:c.859G>T	ENSP00000493657.1:p.Glu287Ter
ENST00000646691.1:n.1475G>T
ENST00000646777.1:n.1921G>T
ENST00000647016.1:n.2068G>T
ENST00000647152.1:c.859G>T	ENSP00000495893.1:p.Glu287Ter
ENST00000647209.1:c.*1457G>T	ENSP00000495558.1:n.*1457G>T
ENST00000647346.1:n.2608G>T
ENST00000299427.10:c.1588G>T	ENSP00000299427.6:p.Glu530Ter
ENST00000524611.1:n.466G>T
ENST00000533371.5:c.859G>T	ENSP00000437066.1:p.Glu287Ter
ENST00000611494.4:c.1588G>T	ENSP00000484546.1:p.Glu530Ter
NM_000391.3:c.1588G>T	NP_000382.3:p.Glu530Ter
NM_000391.4:c.1588G>T MANE Select	NP_000382.3:p.Glu530Ter