Canonical Allele Identifier: CA5858702

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1126026
• ClinVar RCV Id: RCV001457948
• dbSNP Id: rs747179298
• ExAC: 11:6636721 A / G
• gnomAD v2: 11-6636721-A-G
• gnomAD v4: 11-6615490-A-G
• MyVariant Identifiers: chr11:g.6636721A>G (hg19) ; chr11:g.6636721_6636722delinsGT (hg19) ; chr11:g.6615490A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615490A>G , CM000673.2:g.6615490A>G	GRCh38
NC_000011.9:g.6636721A>G , CM000673.1:g.6636721A>G	GRCh37
NC_000011.8:g.6593297A>G	NCBI36
NG_008653.1:g.8972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1104T>C	ENSP00000507321.1:p.Tyr368=
ENST00000299427.12:c.1218T>C MANE Select	ENSP00000299427.6:p.Tyr406=
ENST00000436873.7:c.455T>C
ENST00000524924.2:n.338T>C
ENST00000533371.6:c.489T>C	ENSP00000437066.1:p.Tyr163=
ENST00000642892.1:c.489T>C	ENSP00000494165.1:p.Tyr163=
ENST00000643342.1:c.291T>C
ENST00000643439.1:c.*958T>C	ENSP00000495849.1:n.*958T>C
ENST00000643479.1:n.1404T>C
ENST00000643516.1:c.727T>C
ENST00000644218.1:c.1029T>C	ENSP00000493574.1:p.Tyr343=
ENST00000644683.1:c.*671T>C	ENSP00000494085.1:n.*671T>C
ENST00000644810.1:c.939T>C	ENSP00000495895.1:p.Tyr313=
ENST00000644831.1:n.1394T>C
ENST00000644933.1:c.*84T>C	ENSP00000496133.1:n.*84T>C
ENST00000645285.1:c.*84T>C	ENSP00000495058.1:n.*84T>C
ENST00000645331.1:n.2423T>C
ENST00000645620.1:c.489T>C	ENSP00000493657.1:p.Tyr163=
ENST00000646691.1:n.993T>C
ENST00000646777.1:n.1551T>C
ENST00000647016.1:n.1698T>C
ENST00000647152.1:c.489T>C	ENSP00000495893.1:p.Tyr163=
ENST00000647209.1:c.*1087T>C	ENSP00000495558.1:n.*1087T>C
ENST00000647346.1:n.2238T>C
ENST00000299427.10:c.1218T>C	ENSP00000299427.6:p.Tyr406=
ENST00000524924.1:n.173T>C
ENST00000532191.1:n.271T>C
ENST00000533371.5:c.489T>C	ENSP00000437066.1:p.Tyr163=
ENST00000611494.4:c.1218T>C	ENSP00000484546.1:p.Tyr406=
NM_000391.3:c.1218T>C	NP_000382.3:p.Tyr406=
NM_000391.4:c.1218T>C MANE Select	NP_000382.3:p.Tyr406=