Canonical Allele Identifier: CA379474263

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637636C>A (hg19) ; chr11:g.6616405C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616405C>A , CM000673.2:g.6616405C>A	GRCh38
NC_000011.9:g.6637636C>A , CM000673.1:g.6637636C>A	GRCh37
NC_000011.8:g.6594212C>A	NCBI36
NG_008653.1:g.8057G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.871G>T	ENSP00000507321.1:p.Glu291Ter
ENST00000299427.12:c.985G>T MANE Select	ENSP00000299427.6:p.Glu329Ter
ENST00000436873.7:c.313-331G>T
ENST00000533371.6:c.256G>T	ENSP00000437066.1:p.Glu86Ter
ENST00000642892.1:c.256G>T	ENSP00000494165.1:p.Glu86Ter
ENST00000643342.1:c.75G>T
ENST00000643439.1:c.*725G>T	ENSP00000495849.1:n.*725G>T
ENST00000643479.1:n.1171G>T
ENST00000643516.1:c.494G>T
ENST00000644218.1:c.886+256G>T	ENSP00000493574.1:n.886+256G>T
ENST00000644683.1:c.*438G>T	ENSP00000494085.1:n.*438G>T
ENST00000644810.1:c.706G>T	ENSP00000495895.1:p.Glu236Ter
ENST00000644831.1:n.1161G>T
ENST00000644933.1:c.256G>T	ENSP00000496133.1:p.Glu86Ter
ENST00000645285.1:c.157+256G>T	ENSP00000495058.1:n.157+256G>T
ENST00000645331.1:n.1508G>T
ENST00000645620.1:c.256G>T	ENSP00000493657.1:p.Glu86Ter
ENST00000646691.1:n.78G>T
ENST00000646777.1:n.1318G>T
ENST00000647016.1:n.1465G>T
ENST00000647152.1:c.256G>T	ENSP00000495893.1:p.Glu86Ter
ENST00000647209.1:c.*854G>T	ENSP00000495558.1:n.*854G>T
ENST00000647346.1:n.2005G>T
ENST00000299427.10:c.985G>T	ENSP00000299427.6:p.Glu329Ter
ENST00000533371.5:c.256G>T	ENSP00000437066.1:p.Glu86Ter
ENST00000611494.4:c.985G>T	ENSP00000484546.1:p.Glu329Ter
NM_000391.3:c.985G>T	NP_000382.3:p.Glu329Ter
NM_000391.4:c.985G>T MANE Select	NP_000382.3:p.Glu329Ter