Canonical Allele Identifier: CA379473164

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2084831
• ClinVar RCV Id: RCV003011337
• dbSNP Id: rs1199840174
• gnomAD v3: 11-6615551-G-A
• gnomAD v4: 11-6615551-G-A
• MyVariant Identifiers: chr11:g.6636782G>A (hg19) ; chr11:g.6615551G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615551G>A , CM000673.2:g.6615551G>A	GRCh38
NC_000011.9:g.6636782G>A , CM000673.1:g.6636782G>A	GRCh37
NC_000011.8:g.6593358G>A	NCBI36
NG_008653.1:g.8911C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1043C>T	ENSP00000507321.1:p.Thr348Ile
ENST00000299427.12:c.1157C>T MANE Select	ENSP00000299427.6:p.Thr386Ile
ENST00000436873.7:c.394C>T
ENST00000524924.2:n.277C>T
ENST00000533371.6:c.428C>T	ENSP00000437066.1:p.Thr143Ile
ENST00000642892.1:c.428C>T	ENSP00000494165.1:p.Thr143Ile
ENST00000643342.1:c.236-6C>T
ENST00000643439.1:c.*897C>T	ENSP00000495849.1:n.*897C>T
ENST00000643479.1:n.1343C>T
ENST00000643516.1:c.666C>T
ENST00000644218.1:c.968C>T	ENSP00000493574.1:p.Thr323Ile
ENST00000644683.1:c.*610C>T	ENSP00000494085.1:n.*610C>T
ENST00000644810.1:c.878C>T	ENSP00000495895.1:p.Thr293Ile
ENST00000644831.1:n.1333C>T
ENST00000644933.1:c.*23C>T	ENSP00000496133.1:n.*23C>T
ENST00000645285.1:c.*23C>T	ENSP00000495058.1:n.*23C>T
ENST00000645331.1:n.2362C>T
ENST00000645620.1:c.428C>T	ENSP00000493657.1:p.Thr143Ile
ENST00000646691.1:n.932C>T
ENST00000646777.1:n.1490C>T
ENST00000647016.1:n.1637C>T
ENST00000647152.1:c.428C>T	ENSP00000495893.1:p.Thr143Ile
ENST00000647209.1:c.*1026C>T	ENSP00000495558.1:n.*1026C>T
ENST00000647346.1:n.2177C>T
ENST00000299427.10:c.1157C>T	ENSP00000299427.6:p.Thr386Ile
ENST00000524924.1:n.112C>T
ENST00000532191.1:n.210C>T
ENST00000533371.5:c.428C>T	ENSP00000437066.1:p.Thr143Ile
ENST00000611494.4:c.1157C>T	ENSP00000484546.1:p.Thr386Ile
NM_000391.3:c.1157C>T	NP_000382.3:p.Thr386Ile
NM_000391.4:c.1157C>T MANE Select	NP_000382.3:p.Thr386Ile