Canonical Allele Identifier: CA379471947

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635793G>T (hg19) ; chr11:g.6614562G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614562G>T , CM000673.2:g.6614562G>T	GRCh38
NC_000011.9:g.6635793G>T , CM000673.1:g.6635793G>T	GRCh37
NC_000011.8:g.6592369G>T	NCBI36
NG_008653.1:g.9900C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1562C>A	ENSP00000507321.1:p.Thr521Asn
ENST00000299427.12:c.1676C>A MANE Select	ENSP00000299427.6:p.Thr559Asn
ENST00000524611.2:n.715C>A
ENST00000533371.6:c.947C>A	ENSP00000437066.1:p.Thr316Asn
ENST00000642892.1:c.947C>A	ENSP00000494165.1:p.Thr316Asn
ENST00000643342.1:c.749C>A
ENST00000643439.1:c.*1416C>A	ENSP00000495849.1:n.*1416C>A
ENST00000643479.1:n.1862C>A
ENST00000643516.1:c.1185C>A
ENST00000644218.1:c.1487C>A	ENSP00000493574.1:p.Thr496Asn
ENST00000644683.1:c.*1129C>A	ENSP00000494085.1:n.*1129C>A
ENST00000644810.1:c.1397C>A	ENSP00000495895.1:p.Thr466Asn
ENST00000644831.1:n.1852C>A
ENST00000644933.1:c.*542C>A	ENSP00000496133.1:n.*542C>A
ENST00000645285.1:c.*542C>A	ENSP00000495058.1:n.*542C>A
ENST00000645331.1:n.2881C>A
ENST00000645620.1:c.947C>A	ENSP00000493657.1:p.Thr316Asn
ENST00000646691.1:n.1563C>A
ENST00000646777.1:n.2009C>A
ENST00000647016.1:n.2156C>A
ENST00000647152.1:c.947C>A	ENSP00000495893.1:p.Thr316Asn
ENST00000647209.1:c.*1545C>A	ENSP00000495558.1:n.*1545C>A
ENST00000647346.1:n.2696C>A
ENST00000299427.10:c.1676C>A	ENSP00000299427.6:p.Thr559Asn
ENST00000533371.5:c.947C>A	ENSP00000437066.1:p.Thr316Asn
ENST00000611494.4:c.*4C>A	ENSP00000484546.1:n.*4C>A
NM_000391.3:c.1676C>A	NP_000382.3:p.Thr559Asn
NM_000391.4:c.1676C>A MANE Select	NP_000382.3:p.Thr559Asn