Canonical Allele Identifier: CA5858680

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1424325
• ClinVar RCV Id: RCV001921566 ; RCV002479451
• dbSNP Id: rs769487055
• ExAC: 11:6636548 T / A
• gnomAD v2: 11-6636548-T-A
• gnomAD v4: 11-6615317-T-A
• MyVariant Identifiers: chr11:g.6636548T>A (hg19) ; chr11:g.6615317T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1165A>T	ENSP00000507321.1:p.Thr389Ser
ENST00000299427.12:c.1279A>T MANE Select	ENSP00000299427.6:p.Thr427Ser
ENST00000524611.2:n.139A>T
ENST00000524924.2:n.399A>T
ENST00000533371.6:c.550A>T	ENSP00000437066.1:p.Thr184Ser
ENST00000642892.1:c.550A>T	ENSP00000494165.1:p.Thr184Ser
ENST00000643342.1:c.352A>T
ENST00000643439.1:c.*1019A>T	ENSP00000495849.1:n.*1019A>T
ENST00000643479.1:n.1465A>T
ENST00000643516.1:c.788A>T
ENST00000644218.1:c.1090A>T	ENSP00000493574.1:p.Thr364Ser
ENST00000644683.1:c.*732A>T	ENSP00000494085.1:n.*732A>T
ENST00000644810.1:c.1000A>T	ENSP00000495895.1:p.Thr334Ser
ENST00000644831.1:n.1455A>T
ENST00000644933.1:c.*145A>T	ENSP00000496133.1:n.*145A>T
ENST00000645285.1:c.*145A>T	ENSP00000495058.1:n.*145A>T
ENST00000645331.1:n.2484A>T
ENST00000645620.1:c.550A>T	ENSP00000493657.1:p.Thr184Ser
ENST00000646691.1:n.1166A>T
ENST00000646777.1:n.1612A>T
ENST00000647016.1:n.1759A>T
ENST00000647152.1:c.550A>T	ENSP00000495893.1:p.Thr184Ser
ENST00000647209.1:c.*1148A>T	ENSP00000495558.1:n.*1148A>T
ENST00000647346.1:n.2299A>T
ENST00000299427.10:c.1279A>T	ENSP00000299427.6:p.Thr427Ser
ENST00000524611.1:n.157A>T
ENST00000524924.1:n.234A>T
ENST00000532191.1:n.332A>T
ENST00000533371.5:c.550A>T	ENSP00000437066.1:p.Thr184Ser
ENST00000611494.4:c.1279A>T	ENSP00000484546.1:p.Thr427Ser
NM_000391.3:c.1279A>T	NP_000382.3:p.Thr427Ser
NM_000391.4:c.1279A>T MANE Select	NP_000382.3:p.Thr427Ser