Canonical Allele Identifier: CA472922709

Gene: TPP1

Linked Data

• ClinVar Variation Id: 588892
• ClinVar RCV Id: RCV001410199 ; RCV002315386
• dbSNP Id: rs1564855114
• gnomAD v4: 11-6616731-C-T
• MyVariant Identifiers: chr11:g.6637962C>T (hg19) ; chr11:g.6616731C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616731C>T , CM000673.2:g.6616731C>T	GRCh38
NC_000011.9:g.6637962C>T , CM000673.1:g.6637962C>T	GRCh37
NC_000011.8:g.6594538C>T	NCBI36
NG_008653.1:g.7731G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.702G>A	ENSP00000507321.1:p.Glu234=
ENST00000299427.12:c.816G>A MANE Select	ENSP00000299427.6:p.Glu272=
ENST00000436873.7:c.312+570G>A
ENST00000524788.2:n.1975G>A
ENST00000524903.2:n.2091G>A
ENST00000528807.2:n.472G>A
ENST00000530040.2:n.480-228G>A
ENST00000533371.6:c.87G>A	ENSP00000437066.1:p.Glu29=
ENST00000642892.1:c.87G>A	ENSP00000494165.1:p.Glu29=
ENST00000643439.1:c.*556G>A	ENSP00000495849.1:n.*556G>A
ENST00000643479.1:n.845G>A
ENST00000643516.1:c.396-228G>A
ENST00000644151.1:n.2255G>A
ENST00000644218.1:c.816G>A	ENSP00000493574.1:p.Glu272=
ENST00000644683.1:c.*269G>A	ENSP00000494085.1:n.*269G>A
ENST00000644810.1:c.537G>A	ENSP00000495895.1:p.Glu179=
ENST00000644831.1:n.992G>A
ENST00000644933.1:c.87G>A	ENSP00000496133.1:p.Glu29=
ENST00000645020.1:n.2106G>A
ENST00000645285.1:c.87G>A	ENSP00000495058.1:p.Glu29=
ENST00000645331.1:n.1182G>A
ENST00000645620.1:c.87G>A	ENSP00000493657.1:p.Glu29=
ENST00000646777.1:n.992G>A
ENST00000647016.1:n.1296G>A
ENST00000647152.1:c.87G>A	ENSP00000495893.1:p.Glu29=
ENST00000647209.1:c.*685G>A	ENSP00000495558.1:n.*685G>A
ENST00000647346.1:n.1836G>A
ENST00000299427.10:c.816G>A	ENSP00000299427.6:p.Glu272=
ENST00000436873.6:c.451-228G>A	ENSP00000398136.2:n.451-228G>A
ENST00000524788.1:n.516G>A
ENST00000528807.1:n.366G>A
ENST00000533371.5:c.87G>A	ENSP00000437066.1:p.Glu29=
ENST00000611494.4:c.816G>A	ENSP00000484546.1:p.Glu272=
NM_000391.3:c.816G>A	NP_000382.3:p.Glu272=
NM_000391.4:c.816G>A MANE Select	NP_000382.3:p.Glu272=