Canonical Allele Identifier: CA379472016

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614589-G-A
• MyVariant Identifiers: chr11:g.6635820G>A (hg19) ; chr11:g.6614589G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614589G>A , CM000673.2:g.6614589G>A	GRCh38
NC_000011.9:g.6635820G>A , CM000673.1:g.6635820G>A	GRCh37
NC_000011.8:g.6592396G>A	NCBI36
NG_008653.1:g.9873C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1535C>T	ENSP00000507321.1:p.Thr512Ile
ENST00000299427.12:c.1649C>T MANE Select	ENSP00000299427.6:p.Thr550Ile
ENST00000524611.2:n.688C>T
ENST00000533371.6:c.920C>T	ENSP00000437066.1:p.Thr307Ile
ENST00000642892.1:c.920C>T	ENSP00000494165.1:p.Thr307Ile
ENST00000643342.1:c.722C>T
ENST00000643439.1:c.*1389C>T	ENSP00000495849.1:n.*1389C>T
ENST00000643479.1:n.1835C>T
ENST00000643516.1:c.1158C>T
ENST00000644218.1:c.1460C>T	ENSP00000493574.1:p.Thr487Ile
ENST00000644683.1:c.*1102C>T	ENSP00000494085.1:n.*1102C>T
ENST00000644810.1:c.1370C>T	ENSP00000495895.1:p.Thr457Ile
ENST00000644831.1:n.1825C>T
ENST00000644933.1:c.*515C>T	ENSP00000496133.1:n.*515C>T
ENST00000645285.1:c.*515C>T	ENSP00000495058.1:n.*515C>T
ENST00000645331.1:n.2854C>T
ENST00000645620.1:c.920C>T	ENSP00000493657.1:p.Thr307Ile
ENST00000646691.1:n.1536C>T
ENST00000646777.1:n.1982C>T
ENST00000647016.1:n.2129C>T
ENST00000647152.1:c.920C>T	ENSP00000495893.1:p.Thr307Ile
ENST00000647209.1:c.*1518C>T	ENSP00000495558.1:n.*1518C>T
ENST00000647346.1:n.2669C>T
ENST00000299427.10:c.1649C>T	ENSP00000299427.6:p.Thr550Ile
ENST00000533371.5:c.920C>T	ENSP00000437066.1:p.Thr307Ile
ENST00000611494.4:c.1649C>T	ENSP00000484546.1:p.Thr550Ile
NM_000391.3:c.1649C>T	NP_000382.3:p.Thr550Ile
NM_000391.4:c.1649C>T MANE Select	NP_000382.3:p.Thr550Ile