Canonical Allele Identifier: CA5858584

Gene: TPP1

Linked Data

• dbSNP Id: rs749381175
• ExAC: 11:6635762 C / T
• gnomAD v2: 11-6635762-C-T
• gnomAD v3: 11-6614531-C-T
• gnomAD v4: 11-6614531-C-T
• MyVariant Identifiers: chr11:g.6635762C>T (hg19) ; chr11:g.6614531C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614531C>T , CM000673.2:g.6614531C>T	GRCh38
NC_000011.9:g.6635762C>T , CM000673.1:g.6635762C>T	GRCh37
NC_000011.8:g.6592338C>T	NCBI36
NG_008653.1:g.9931G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*15G>A	ENSP00000507321.1:n.*15G>A
ENST00000299427.12:c.*15G>A MANE Select	ENSP00000299427.6:n.*15G>A
ENST00000524611.2:n.746G>A
ENST00000533371.6:c.*15G>A	ENSP00000437066.1:n.*15G>A
ENST00000642892.1:c.*15G>A	ENSP00000494165.1:n.*15G>A
ENST00000643342.1:c.780G>A
ENST00000643439.1:c.*1447G>A	ENSP00000495849.1:n.*1447G>A
ENST00000643479.1:n.1893G>A
ENST00000643516.1:c.1216G>A
ENST00000644218.1:c.*15G>A	ENSP00000493574.1:n.*15G>A
ENST00000644683.1:c.*1160G>A	ENSP00000494085.1:n.*1160G>A
ENST00000644810.1:c.*15G>A	ENSP00000495895.1:n.*15G>A
ENST00000644831.1:n.1883G>A
ENST00000644933.1:c.*573G>A	ENSP00000496133.1:n.*573G>A
ENST00000645285.1:c.*573G>A	ENSP00000495058.1:n.*573G>A
ENST00000645331.1:n.2912G>A
ENST00000645620.1:c.*15G>A	ENSP00000493657.1:n.*15G>A
ENST00000646691.1:n.1594G>A
ENST00000646777.1:n.2040G>A
ENST00000647016.1:n.2187G>A
ENST00000647152.1:c.*15G>A	ENSP00000495893.1:n.*15G>A
ENST00000647209.1:c.*1576G>A	ENSP00000495558.1:n.*1576G>A
ENST00000647346.1:n.2727G>A
ENST00000299427.10:c.*15G>A	ENSP00000299427.6:n.*15G>A
ENST00000533371.5:c.*15G>A	ENSP00000437066.1:n.*15G>A
ENST00000611494.4:c.*35G>A	ENSP00000484546.1:n.*35G>A
NM_000391.3:c.*15G>A	NP_000382.3:n.*15G>A
NM_000391.4:c.*15G>A MANE Select	NP_000382.3:n.*15G>A