Canonical Allele Identifier: CA379472814

Gene: TPP1

Linked Data

• dbSNP Id: rs769487055
• gnomAD v2: 11-6636548-T-C
• gnomAD v3: 11-6615317-T-C
• gnomAD v4: 11-6615317-T-C
• MyVariant Identifiers: chr11:g.6636548T>C (hg19) ; chr11:g.6615317T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615317T>C , CM000673.2:g.6615317T>C	GRCh38
NC_000011.9:g.6636548T>C , CM000673.1:g.6636548T>C	GRCh37
NC_000011.8:g.6593124T>C	NCBI36
NG_008653.1:g.9145A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1165A>G	ENSP00000507321.1:p.Thr389Ala
ENST00000299427.12:c.1279A>G MANE Select	ENSP00000299427.6:p.Thr427Ala
ENST00000524611.2:n.139A>G
ENST00000524924.2:n.399A>G
ENST00000533371.6:c.550A>G	ENSP00000437066.1:p.Thr184Ala
ENST00000642892.1:c.550A>G	ENSP00000494165.1:p.Thr184Ala
ENST00000643342.1:c.352A>G
ENST00000643439.1:c.*1019A>G	ENSP00000495849.1:n.*1019A>G
ENST00000643479.1:n.1465A>G
ENST00000643516.1:c.788A>G
ENST00000644218.1:c.1090A>G	ENSP00000493574.1:p.Thr364Ala
ENST00000644683.1:c.*732A>G	ENSP00000494085.1:n.*732A>G
ENST00000644810.1:c.1000A>G	ENSP00000495895.1:p.Thr334Ala
ENST00000644831.1:n.1455A>G
ENST00000644933.1:c.*145A>G	ENSP00000496133.1:n.*145A>G
ENST00000645285.1:c.*145A>G	ENSP00000495058.1:n.*145A>G
ENST00000645331.1:n.2484A>G
ENST00000645620.1:c.550A>G	ENSP00000493657.1:p.Thr184Ala
ENST00000646691.1:n.1166A>G
ENST00000646777.1:n.1612A>G
ENST00000647016.1:n.1759A>G
ENST00000647152.1:c.550A>G	ENSP00000495893.1:p.Thr184Ala
ENST00000647209.1:c.*1148A>G	ENSP00000495558.1:n.*1148A>G
ENST00000647346.1:n.2299A>G
ENST00000299427.10:c.1279A>G	ENSP00000299427.6:p.Thr427Ala
ENST00000524611.1:n.157A>G
ENST00000524924.1:n.234A>G
ENST00000532191.1:n.332A>G
ENST00000533371.5:c.550A>G	ENSP00000437066.1:p.Thr184Ala
ENST00000611494.4:c.1279A>G	ENSP00000484546.1:p.Thr427Ala
NM_000391.3:c.1279A>G	NP_000382.3:p.Thr427Ala
NM_000391.4:c.1279A>G MANE Select	NP_000382.3:p.Thr427Ala