Canonical Allele Identifier: CA5858961

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1362951
• ClinVar RCV Id: RCV001902001
• dbSNP Id: rs765595428
• ExAC: 11:6638651 T / C
• gnomAD v2: 11-6638651-T-C
• gnomAD v4: 11-6617420-T-C
• MyVariant Identifiers: chr11:g.6638651T>C (hg19) ; chr11:g.6617420T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617420T>C , CM000673.2:g.6617420T>C	GRCh38
NC_000011.9:g.6638651T>C , CM000673.1:g.6638651T>C	GRCh37
NC_000011.8:g.6595227T>C	NCBI36
NG_008653.1:g.7042A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.275A>G	ENSP00000507321.1:p.Glu92Gly
ENST00000299427.12:c.389A>G MANE Select	ENSP00000299427.6:p.Glu130Gly
ENST00000428886.7:n.477A>G
ENST00000436873.7:c.193A>G
ENST00000524788.2:n.1401A>G
ENST00000524903.2:n.1517A>G
ENST00000528571.6:c.*129A>G	ENSP00000434647.1:n.*129A>G
ENST00000528807.2:n.45A>G
ENST00000530040.2:n.418A>G
ENST00000533371.6:c.-341A>G	ENSP00000437066.1:n.-341A>G
ENST00000534644.6:n.390A>G
ENST00000642892.1:c.-288A>G	ENSP00000494165.1:n.-288A>G
ENST00000643439.1:c.*129A>G	ENSP00000495849.1:n.*129A>G
ENST00000643479.1:n.418A>G
ENST00000643516.1:c.276A>G
ENST00000644151.1:n.1681A>G
ENST00000644218.1:c.389A>G	ENSP00000493574.1:p.Glu130Gly
ENST00000644683.1:c.389A>G	ENSP00000494085.1:p.Glu130Gly
ENST00000644810.1:c.230-267A>G	ENSP00000495895.1:n.230-267A>G
ENST00000644831.1:n.418A>G
ENST00000644933.1:c.-341A>G	ENSP00000496133.1:n.-341A>G
ENST00000645020.1:n.1417A>G
ENST00000645285.1:c.-341A>G	ENSP00000495058.1:n.-341A>G
ENST00000645331.1:n.608A>G
ENST00000645620.1:c.-283A>G	ENSP00000493657.1:n.-283A>G
ENST00000646777.1:n.418A>G
ENST00000647016.1:n.722A>G
ENST00000647152.1:c.-341A>G	ENSP00000495893.1:n.-341A>G
ENST00000647209.1:c.*258A>G	ENSP00000495558.1:n.*258A>G
ENST00000647346.1:n.1409A>G
ENST00000299427.10:c.389A>G	ENSP00000299427.6:p.Glu130Gly
ENST00000428886.6:n.411A>G
ENST00000436873.6:c.389A>G	ENSP00000398136.2:p.Glu130Gly
ENST00000528571.5:c.*129A>G	ENSP00000434647.1:n.*129A>G
ENST00000530040.1:n.501A>G
ENST00000533371.5:c.-341A>G	ENSP00000437066.1:n.-341A>G
ENST00000534644.5:n.374A>G
ENST00000611494.4:c.389A>G	ENSP00000484546.1:p.Glu130Gly
NM_000391.3:c.389A>G	NP_000382.3:p.Glu130Gly
NM_000391.4:c.389A>G MANE Select	NP_000382.3:p.Glu130Gly