Canonical Allele Identifier: CA379472192

Gene: TPP1

Linked Data

• ClinVar Variation Id: 990497
• ClinVar RCV Id: RCV001278536
• dbSNP Id: rs1157546558
• gnomAD v2: 11-6635899-C-T
• gnomAD v3: 11-6614668-C-T
• gnomAD v4: 11-6614668-C-T
• MyVariant Identifiers: chr11:g.6635899C>T (hg19) ; chr11:g.6614668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614668C>T , CM000673.2:g.6614668C>T	GRCh38
NC_000011.9:g.6635899C>T , CM000673.1:g.6635899C>T	GRCh37
NC_000011.8:g.6592475C>T	NCBI36
NG_008653.1:g.9794G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1456G>A	ENSP00000507321.1:p.Glu486Lys
ENST00000299427.12:c.1570G>A MANE Select	ENSP00000299427.6:p.Glu524Lys
ENST00000524611.2:n.609G>A
ENST00000524924.2:n.690G>A
ENST00000533371.6:c.841G>A	ENSP00000437066.1:p.Glu281Lys
ENST00000642892.1:c.841G>A	ENSP00000494165.1:p.Glu281Lys
ENST00000643342.1:c.643G>A
ENST00000643439.1:c.*1310G>A	ENSP00000495849.1:n.*1310G>A
ENST00000643479.1:n.1756G>A
ENST00000643516.1:c.1079G>A
ENST00000644218.1:c.1381G>A	ENSP00000493574.1:p.Glu461Lys
ENST00000644683.1:c.*1023G>A	ENSP00000494085.1:n.*1023G>A
ENST00000644810.1:c.1291G>A	ENSP00000495895.1:p.Glu431Lys
ENST00000644831.1:n.1746G>A
ENST00000644933.1:c.*436G>A	ENSP00000496133.1:n.*436G>A
ENST00000645285.1:c.*436G>A	ENSP00000495058.1:n.*436G>A
ENST00000645331.1:n.2775G>A
ENST00000645620.1:c.841G>A	ENSP00000493657.1:p.Glu281Lys
ENST00000646691.1:n.1457G>A
ENST00000646777.1:n.1903G>A
ENST00000647016.1:n.2050G>A
ENST00000647152.1:c.841G>A	ENSP00000495893.1:p.Glu281Lys
ENST00000647209.1:c.*1439G>A	ENSP00000495558.1:n.*1439G>A
ENST00000647346.1:n.2590G>A
ENST00000299427.10:c.1570G>A	ENSP00000299427.6:p.Glu524Lys
ENST00000524611.1:n.448G>A
ENST00000533371.5:c.841G>A	ENSP00000437066.1:p.Glu281Lys
ENST00000611494.4:c.1570G>A	ENSP00000484546.1:p.Glu524Lys
NM_000391.3:c.1570G>A	NP_000382.3:p.Glu524Lys
NM_000391.4:c.1570G>A MANE Select	NP_000382.3:p.Glu524Lys