Canonical Allele Identifier: CA379472214

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635910C>A (hg19) ; chr11:g.6614679C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614679C>A , CM000673.2:g.6614679C>A	GRCh38
NC_000011.9:g.6635910C>A , CM000673.1:g.6635910C>A	GRCh37
NC_000011.8:g.6592486C>A	NCBI36
NG_008653.1:g.9783G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1445G>T	ENSP00000507321.1:p.Arg482Leu
ENST00000299427.12:c.1559G>T MANE Select	ENSP00000299427.6:p.Arg520Leu
ENST00000524611.2:n.598G>T
ENST00000524924.2:n.679G>T
ENST00000533371.6:c.830G>T	ENSP00000437066.1:p.Arg277Leu
ENST00000642892.1:c.830G>T	ENSP00000494165.1:p.Arg277Leu
ENST00000643342.1:c.632G>T
ENST00000643439.1:c.*1299G>T	ENSP00000495849.1:n.*1299G>T
ENST00000643479.1:n.1745G>T
ENST00000643516.1:c.1068G>T
ENST00000644218.1:c.1370G>T	ENSP00000493574.1:p.Arg457Leu
ENST00000644683.1:c.*1012G>T	ENSP00000494085.1:n.*1012G>T
ENST00000644810.1:c.1280G>T	ENSP00000495895.1:p.Arg427Leu
ENST00000644831.1:n.1735G>T
ENST00000644933.1:c.*425G>T	ENSP00000496133.1:n.*425G>T
ENST00000645285.1:c.*425G>T	ENSP00000495058.1:n.*425G>T
ENST00000645331.1:n.2764G>T
ENST00000645620.1:c.830G>T	ENSP00000493657.1:p.Arg277Leu
ENST00000646691.1:n.1446G>T
ENST00000646777.1:n.1892G>T
ENST00000647016.1:n.2039G>T
ENST00000647152.1:c.830G>T	ENSP00000495893.1:p.Arg277Leu
ENST00000647209.1:c.*1428G>T	ENSP00000495558.1:n.*1428G>T
ENST00000647346.1:n.2579G>T
ENST00000299427.10:c.1559G>T	ENSP00000299427.6:p.Arg520Leu
ENST00000524611.1:n.437G>T
ENST00000533371.5:c.830G>T	ENSP00000437066.1:p.Arg277Leu
ENST00000611494.4:c.1559G>T	ENSP00000484546.1:p.Arg520Leu
NM_000391.3:c.1559G>T	NP_000382.3:p.Arg520Leu
NM_000391.4:c.1559G>T MANE Select	NP_000382.3:p.Arg520Leu