Canonical Allele Identifier: CA291358

Gene: TPP1

Linked Data

• ClinVar Variation Id: 137702
• ClinVar RCV Id: RCV000125590 ; RCV000671745 ; RCV000868268
• dbSNP Id: rs587780972
• ExAC: 11:6637256 G / A
• gnomAD v2: 11-6637256-G-A
• gnomAD v3: 11-6616025-G-A
• gnomAD v4: 11-6616025-G-A
• MyVariant Identifiers: chr11:g.6637256G>A (hg19) ; chr11:g.6616025G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616025G>A , CM000673.2:g.6616025G>A	GRCh38
NC_000011.9:g.6637256G>A , CM000673.1:g.6637256G>A	GRCh37
NC_000011.8:g.6593832G>A	NCBI36
NG_008653.1:g.8437C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1011C>T	ENSP00000507321.1:p.Arg337=
ENST00000299427.12:c.1125C>T MANE Select	ENSP00000299427.6:p.Arg375=
ENST00000436873.7:c.362C>T
ENST00000524924.2:n.245C>T
ENST00000533371.6:c.396C>T	ENSP00000437066.1:p.Arg132=
ENST00000642892.1:c.396C>T	ENSP00000494165.1:p.Arg132=
ENST00000643342.1:c.215C>T
ENST00000643439.1:c.*865C>T	ENSP00000495849.1:n.*865C>T
ENST00000643479.1:n.1311C>T
ENST00000643516.1:c.634C>T
ENST00000644218.1:c.936C>T	ENSP00000493574.1:p.Arg312=
ENST00000644683.1:c.*578C>T	ENSP00000494085.1:n.*578C>T
ENST00000644810.1:c.846C>T	ENSP00000495895.1:p.Arg282=
ENST00000644831.1:n.1301C>T
ENST00000644933.1:c.396C>T	ENSP00000496133.1:p.Arg132=
ENST00000645285.1:c.207C>T	ENSP00000495058.1:p.Arg69=
ENST00000645331.1:n.1888C>T
ENST00000645620.1:c.396C>T	ENSP00000493657.1:p.Arg132=
ENST00000646691.1:n.458C>T
ENST00000646777.1:n.1458C>T
ENST00000647016.1:n.1605C>T
ENST00000647152.1:c.396C>T	ENSP00000495893.1:p.Arg132=
ENST00000647209.1:c.*994C>T	ENSP00000495558.1:n.*994C>T
ENST00000647346.1:n.2145C>T
ENST00000299427.10:c.1125C>T	ENSP00000299427.6:p.Arg375=
ENST00000524924.1:n.80C>T
ENST00000533371.5:c.396C>T	ENSP00000437066.1:p.Arg132=
ENST00000611494.4:c.1125C>T	ENSP00000484546.1:p.Arg375=
NM_000391.3:c.1125C>T	NP_000382.3:p.Arg375=
NM_000391.4:c.1125C>T MANE Select	NP_000382.3:p.Arg375=