Canonical Allele Identifier: CA379473005

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636740G>A (hg19) ; chr11:g.6615509G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615509G>A , CM000673.2:g.6615509G>A	GRCh38
NC_000011.9:g.6636740G>A , CM000673.1:g.6636740G>A	GRCh37
NC_000011.8:g.6593316G>A	NCBI36
NG_008653.1:g.8953C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1085C>T	ENSP00000507321.1:p.Thr362Ile
ENST00000299427.12:c.1199C>T MANE Select	ENSP00000299427.6:p.Thr400Ile
ENST00000436873.7:c.436C>T
ENST00000524924.2:n.319C>T
ENST00000533371.6:c.470C>T	ENSP00000437066.1:p.Thr157Ile
ENST00000642892.1:c.470C>T	ENSP00000494165.1:p.Thr157Ile
ENST00000643342.1:c.272C>T
ENST00000643439.1:c.*939C>T	ENSP00000495849.1:n.*939C>T
ENST00000643479.1:n.1385C>T
ENST00000643516.1:c.708C>T
ENST00000644218.1:c.1010C>T	ENSP00000493574.1:p.Thr337Ile
ENST00000644683.1:c.*652C>T	ENSP00000494085.1:n.*652C>T
ENST00000644810.1:c.920C>T	ENSP00000495895.1:p.Thr307Ile
ENST00000644831.1:n.1375C>T
ENST00000644933.1:c.*65C>T	ENSP00000496133.1:n.*65C>T
ENST00000645285.1:c.*65C>T	ENSP00000495058.1:n.*65C>T
ENST00000645331.1:n.2404C>T
ENST00000645620.1:c.470C>T	ENSP00000493657.1:p.Thr157Ile
ENST00000646691.1:n.974C>T
ENST00000646777.1:n.1532C>T
ENST00000647016.1:n.1679C>T
ENST00000647152.1:c.470C>T	ENSP00000495893.1:p.Thr157Ile
ENST00000647209.1:c.*1068C>T	ENSP00000495558.1:n.*1068C>T
ENST00000647346.1:n.2219C>T
ENST00000299427.10:c.1199C>T	ENSP00000299427.6:p.Thr400Ile
ENST00000524924.1:n.154C>T
ENST00000532191.1:n.252C>T
ENST00000533371.5:c.470C>T	ENSP00000437066.1:p.Thr157Ile
ENST00000611494.4:c.1199C>T	ENSP00000484546.1:p.Thr400Ile
NM_000391.3:c.1199C>T	NP_000382.3:p.Thr400Ile
NM_000391.4:c.1199C>T MANE Select	NP_000382.3:p.Thr400Ile