Canonical Allele Identifier: CA472772012

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2091450
• ClinVar RCV Id: RCV003007964
• dbSNP Id: rs1221675346
• gnomAD v2: 11-6636760-G-A
• gnomAD v4: 11-6615529-G-A
• MyVariant Identifiers: chr11:g.6636760G>A (hg19) ; chr11:g.6615529G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615529G>A , CM000673.2:g.6615529G>A	GRCh38
NC_000011.9:g.6636760G>A , CM000673.1:g.6636760G>A	GRCh37
NC_000011.8:g.6593336G>A	NCBI36
NG_008653.1:g.8933C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1065C>T	ENSP00000507321.1:p.Phe355=
ENST00000299427.12:c.1179C>T MANE Select	ENSP00000299427.6:p.Phe393=
ENST00000436873.7:c.416C>T
ENST00000524924.2:n.299C>T
ENST00000533371.6:c.450C>T	ENSP00000437066.1:p.Phe150=
ENST00000642892.1:c.450C>T	ENSP00000494165.1:p.Phe150=
ENST00000643342.1:c.252C>T
ENST00000643439.1:c.*919C>T	ENSP00000495849.1:n.*919C>T
ENST00000643479.1:n.1365C>T
ENST00000643516.1:c.688C>T
ENST00000644218.1:c.990C>T	ENSP00000493574.1:p.Phe330=
ENST00000644683.1:c.*632C>T	ENSP00000494085.1:n.*632C>T
ENST00000644810.1:c.900C>T	ENSP00000495895.1:p.Phe300=
ENST00000644831.1:n.1355C>T
ENST00000644933.1:c.*45C>T	ENSP00000496133.1:n.*45C>T
ENST00000645285.1:c.*45C>T	ENSP00000495058.1:n.*45C>T
ENST00000645331.1:n.2384C>T
ENST00000645620.1:c.450C>T	ENSP00000493657.1:p.Phe150=
ENST00000646691.1:n.954C>T
ENST00000646777.1:n.1512C>T
ENST00000647016.1:n.1659C>T
ENST00000647152.1:c.450C>T	ENSP00000495893.1:p.Phe150=
ENST00000647209.1:c.*1048C>T	ENSP00000495558.1:n.*1048C>T
ENST00000647346.1:n.2199C>T
ENST00000299427.10:c.1179C>T	ENSP00000299427.6:p.Phe393=
ENST00000524924.1:n.134C>T
ENST00000532191.1:n.232C>T
ENST00000533371.5:c.450C>T	ENSP00000437066.1:p.Phe150=
ENST00000611494.4:c.1179C>T	ENSP00000484546.1:p.Phe393=
NM_000391.3:c.1179C>T	NP_000382.3:p.Phe393=
NM_000391.4:c.1179C>T MANE Select	NP_000382.3:p.Phe393=