Canonical Allele Identifier: CA5858799

Gene: TPP1

Linked Data

• ClinVar Variation Id: 969895
• ClinVar RCV Id: RCV001245345 ; RCV001836236
• dbSNP Id: rs773946638
• ExAC: 11:6637656 G / A
• gnomAD v2: 11-6637656-G-A
• gnomAD v4: 11-6616425-G-A
• MyVariant Identifiers: chr11:g.6637656G>A (hg19) ; chr11:g.6616425G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616425G>A , CM000673.2:g.6616425G>A	GRCh38
NC_000011.9:g.6637656G>A , CM000673.1:g.6637656G>A	GRCh37
NC_000011.8:g.6594232G>A	NCBI36
NG_008653.1:g.8037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.851C>T	ENSP00000507321.1:p.Thr284Ile
ENST00000299427.12:c.965C>T MANE Select	ENSP00000299427.6:p.Thr322Ile
ENST00000436873.7:c.313-351C>T
ENST00000530040.2:n.558C>T
ENST00000533371.6:c.236C>T	ENSP00000437066.1:p.Thr79Ile
ENST00000642892.1:c.236C>T	ENSP00000494165.1:p.Thr79Ile
ENST00000643342.1:c.55C>T
ENST00000643439.1:c.*705C>T	ENSP00000495849.1:n.*705C>T
ENST00000643479.1:n.1151C>T
ENST00000643516.1:c.474C>T
ENST00000644218.1:c.886+236C>T	ENSP00000493574.1:n.886+236C>T
ENST00000644683.1:c.*418C>T	ENSP00000494085.1:n.*418C>T
ENST00000644810.1:c.686C>T	ENSP00000495895.1:p.Thr229Ile
ENST00000644831.1:n.1141C>T
ENST00000644933.1:c.236C>T	ENSP00000496133.1:p.Thr79Ile
ENST00000645285.1:c.157+236C>T	ENSP00000495058.1:n.157+236C>T
ENST00000645331.1:n.1488C>T
ENST00000645620.1:c.236C>T	ENSP00000493657.1:p.Thr79Ile
ENST00000646691.1:n.58C>T
ENST00000646777.1:n.1298C>T
ENST00000647016.1:n.1445C>T
ENST00000647152.1:c.236C>T	ENSP00000495893.1:p.Thr79Ile
ENST00000647209.1:c.*834C>T	ENSP00000495558.1:n.*834C>T
ENST00000647346.1:n.1985C>T
ENST00000299427.10:c.965C>T	ENSP00000299427.6:p.Thr322Ile
ENST00000436873.6:c.529C>T	ENSP00000398136.2:p.Leu177=
ENST00000533371.5:c.236C>T	ENSP00000437066.1:p.Thr79Ile
ENST00000611494.4:c.965C>T	ENSP00000484546.1:p.Thr322Ile
NM_000391.3:c.965C>T	NP_000382.3:p.Thr322Ile
NM_000391.4:c.965C>T MANE Select	NP_000382.3:p.Thr322Ile