Canonical Allele Identifier: CA379472156

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2023941
• ClinVar RCV Id: RCV002862946
• gnomAD v4: 11-6614653-C-T
• MyVariant Identifiers: chr11:g.6635884C>T (hg19) ; chr11:g.6614653C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614653C>T , CM000673.2:g.6614653C>T	GRCh38
NC_000011.9:g.6635884C>T , CM000673.1:g.6635884C>T	GRCh37
NC_000011.8:g.6592460C>T	NCBI36
NG_008653.1:g.9809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1471G>A	ENSP00000507321.1:p.Glu491Lys
ENST00000299427.12:c.1585G>A MANE Select	ENSP00000299427.6:p.Glu529Lys
ENST00000524611.2:n.624G>A
ENST00000524924.2:n.705G>A
ENST00000533371.6:c.856G>A	ENSP00000437066.1:p.Glu286Lys
ENST00000642892.1:c.856G>A	ENSP00000494165.1:p.Glu286Lys
ENST00000643342.1:c.658G>A
ENST00000643439.1:c.*1325G>A	ENSP00000495849.1:n.*1325G>A
ENST00000643479.1:n.1771G>A
ENST00000643516.1:c.1094G>A
ENST00000644218.1:c.1396G>A	ENSP00000493574.1:p.Glu466Lys
ENST00000644683.1:c.*1038G>A	ENSP00000494085.1:n.*1038G>A
ENST00000644810.1:c.1306G>A	ENSP00000495895.1:p.Glu436Lys
ENST00000644831.1:n.1761G>A
ENST00000644933.1:c.*451G>A	ENSP00000496133.1:n.*451G>A
ENST00000645285.1:c.*451G>A	ENSP00000495058.1:n.*451G>A
ENST00000645331.1:n.2790G>A
ENST00000645620.1:c.856G>A	ENSP00000493657.1:p.Glu286Lys
ENST00000646691.1:n.1472G>A
ENST00000646777.1:n.1918G>A
ENST00000647016.1:n.2065G>A
ENST00000647152.1:c.856G>A	ENSP00000495893.1:p.Glu286Lys
ENST00000647209.1:c.*1454G>A	ENSP00000495558.1:n.*1454G>A
ENST00000647346.1:n.2605G>A
ENST00000299427.10:c.1585G>A	ENSP00000299427.6:p.Glu529Lys
ENST00000524611.1:n.463G>A
ENST00000533371.5:c.856G>A	ENSP00000437066.1:p.Glu286Lys
ENST00000611494.4:c.1585G>A	ENSP00000484546.1:p.Glu529Lys
NM_000391.3:c.1585G>A	NP_000382.3:p.Glu529Lys
NM_000391.4:c.1585G>A MANE Select	NP_000382.3:p.Glu529Lys