Canonical Allele Identifier: CA5858587

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1256973
• ClinVar RCV Id: RCV001666123
• dbSNP Id: rs368345241
• ExAC: 11:6635765 G / T
• gnomAD v2: 11-6635765-G-T
• gnomAD v3: 11-6614534-G-T
• gnomAD v4: 11-6614534-G-T
• MyVariant Identifiers: chr11:g.6635765G>T (hg19) ; chr11:g.6614534G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614534G>T , CM000673.2:g.6614534G>T	GRCh38
NC_000011.9:g.6635765G>T , CM000673.1:g.6635765G>T	GRCh37
NC_000011.8:g.6592341G>T	NCBI36
NG_008653.1:g.9928C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*12C>A	ENSP00000507321.1:n.*12C>A
ENST00000299427.12:c.*12C>A MANE Select	ENSP00000299427.6:n.*12C>A
ENST00000524611.2:n.743C>A
ENST00000533371.6:c.*12C>A	ENSP00000437066.1:n.*12C>A
ENST00000642892.1:c.*12C>A	ENSP00000494165.1:n.*12C>A
ENST00000643342.1:c.777C>A
ENST00000643439.1:c.*1444C>A	ENSP00000495849.1:n.*1444C>A
ENST00000643479.1:n.1890C>A
ENST00000643516.1:c.1213C>A
ENST00000644218.1:c.*12C>A	ENSP00000493574.1:n.*12C>A
ENST00000644683.1:c.*1157C>A	ENSP00000494085.1:n.*1157C>A
ENST00000644810.1:c.*12C>A	ENSP00000495895.1:n.*12C>A
ENST00000644831.1:n.1880C>A
ENST00000644933.1:c.*570C>A	ENSP00000496133.1:n.*570C>A
ENST00000645285.1:c.*570C>A	ENSP00000495058.1:n.*570C>A
ENST00000645331.1:n.2909C>A
ENST00000645620.1:c.*12C>A	ENSP00000493657.1:n.*12C>A
ENST00000646691.1:n.1591C>A
ENST00000646777.1:n.2037C>A
ENST00000647016.1:n.2184C>A
ENST00000647152.1:c.*12C>A	ENSP00000495893.1:n.*12C>A
ENST00000647209.1:c.*1573C>A	ENSP00000495558.1:n.*1573C>A
ENST00000647346.1:n.2724C>A
ENST00000299427.10:c.*12C>A	ENSP00000299427.6:n.*12C>A
ENST00000533371.5:c.*12C>A	ENSP00000437066.1:n.*12C>A
ENST00000611494.4:c.*32C>A	ENSP00000484546.1:n.*32C>A
NM_000391.3:c.*12C>A	NP_000382.3:n.*12C>A
NM_000391.4:c.*12C>A MANE Select	NP_000382.3:n.*12C>A