Canonical Allele Identifier: CA472772164

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1534014
• ClinVar RCV Id: RCV002082807
• dbSNP Id: rs1324007321
• gnomAD v2: 11-6636781-G-A
• MyVariant Identifiers: chr11:g.6636781G>A (hg19) ; chr11:g.6615550G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615550G>A , CM000673.2:g.6615550G>A	GRCh38
NC_000011.9:g.6636781G>A , CM000673.1:g.6636781G>A	GRCh37
NC_000011.8:g.6593357G>A	NCBI36
NG_008653.1:g.8912C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1044C>T	ENSP00000507321.1:p.Thr348=
ENST00000299427.12:c.1158C>T MANE Select	ENSP00000299427.6:p.Thr386=
ENST00000436873.7:c.395C>T
ENST00000524924.2:n.278C>T
ENST00000533371.6:c.429C>T	ENSP00000437066.1:p.Thr143=
ENST00000642892.1:c.429C>T	ENSP00000494165.1:p.Thr143=
ENST00000643342.1:c.236-5C>T
ENST00000643439.1:c.*898C>T	ENSP00000495849.1:n.*898C>T
ENST00000643479.1:n.1344C>T
ENST00000643516.1:c.667C>T
ENST00000644218.1:c.969C>T	ENSP00000493574.1:p.Thr323=
ENST00000644683.1:c.*611C>T	ENSP00000494085.1:n.*611C>T
ENST00000644810.1:c.879C>T	ENSP00000495895.1:p.Thr293=
ENST00000644831.1:n.1334C>T
ENST00000644933.1:c.*24C>T	ENSP00000496133.1:n.*24C>T
ENST00000645285.1:c.*24C>T	ENSP00000495058.1:n.*24C>T
ENST00000645331.1:n.2363C>T
ENST00000645620.1:c.429C>T	ENSP00000493657.1:p.Thr143=
ENST00000646691.1:n.933C>T
ENST00000646777.1:n.1491C>T
ENST00000647016.1:n.1638C>T
ENST00000647152.1:c.429C>T	ENSP00000495893.1:p.Thr143=
ENST00000647209.1:c.*1027C>T	ENSP00000495558.1:n.*1027C>T
ENST00000647346.1:n.2178C>T
ENST00000299427.10:c.1158C>T	ENSP00000299427.6:p.Thr386=
ENST00000524924.1:n.113C>T
ENST00000532191.1:n.211C>T
ENST00000533371.5:c.429C>T	ENSP00000437066.1:p.Thr143=
ENST00000611494.4:c.1158C>T	ENSP00000484546.1:p.Thr386=
NM_000391.3:c.1158C>T	NP_000382.3:p.Thr386=
NM_000391.4:c.1158C>T MANE Select	NP_000382.3:p.Thr386=