Canonical Allele Identifier: CA472771817

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1091126
• ClinVar RCV Id: RCV001410548
• dbSNP Id: rs1430496749
• gnomAD v2: 11-6636733-T-C
• MyVariant Identifiers: chr11:g.6636733T>C (hg19) ; chr11:g.6615502T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615502T>C , CM000673.2:g.6615502T>C	GRCh38
NC_000011.9:g.6636733T>C , CM000673.1:g.6636733T>C	GRCh37
NC_000011.8:g.6593309T>C	NCBI36
NG_008653.1:g.8960A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1092A>G	ENSP00000507321.1:p.Glu364=
ENST00000299427.12:c.1206A>G MANE Select	ENSP00000299427.6:p.Glu402=
ENST00000436873.7:c.443A>G
ENST00000524924.2:n.326A>G
ENST00000533371.6:c.477A>G	ENSP00000437066.1:p.Glu159=
ENST00000642892.1:c.477A>G	ENSP00000494165.1:p.Glu159=
ENST00000643342.1:c.279A>G
ENST00000643439.1:c.*946A>G	ENSP00000495849.1:n.*946A>G
ENST00000643479.1:n.1392A>G
ENST00000643516.1:c.715A>G
ENST00000644218.1:c.1017A>G	ENSP00000493574.1:p.Glu339=
ENST00000644683.1:c.*659A>G	ENSP00000494085.1:n.*659A>G
ENST00000644810.1:c.927A>G	ENSP00000495895.1:p.Glu309=
ENST00000644831.1:n.1382A>G
ENST00000644933.1:c.*72A>G	ENSP00000496133.1:n.*72A>G
ENST00000645285.1:c.*72A>G	ENSP00000495058.1:n.*72A>G
ENST00000645331.1:n.2411A>G
ENST00000645620.1:c.477A>G	ENSP00000493657.1:p.Glu159=
ENST00000646691.1:n.981A>G
ENST00000646777.1:n.1539A>G
ENST00000647016.1:n.1686A>G
ENST00000647152.1:c.477A>G	ENSP00000495893.1:p.Glu159=
ENST00000647209.1:c.*1075A>G	ENSP00000495558.1:n.*1075A>G
ENST00000647346.1:n.2226A>G
ENST00000299427.10:c.1206A>G	ENSP00000299427.6:p.Glu402=
ENST00000524924.1:n.161A>G
ENST00000532191.1:n.259A>G
ENST00000533371.5:c.477A>G	ENSP00000437066.1:p.Glu159=
ENST00000611494.4:c.1206A>G	ENSP00000484546.1:p.Glu402=
NM_000391.3:c.1206A>G	NP_000382.3:p.Glu402=
NM_000391.4:c.1206A>G MANE Select	NP_000382.3:p.Glu402=