Canonical Allele Identifier: CA472771795

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636730A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615499A>T , CM000673.2:g.6615499A>T	GRCh38
NC_000011.9:g.6636730A>T , CM000673.1:g.6636730A>T	GRCh37
NC_000011.8:g.6593306A>T	NCBI36
NG_008653.1:g.8963T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1095T>A	ENSP00000507321.1:p.Ile365=
ENST00000299427.12:c.1209T>A MANE Select	ENSP00000299427.6:p.Ile403=
ENST00000436873.7:c.446T>A
ENST00000524924.2:n.329T>A
ENST00000533371.6:c.480T>A	ENSP00000437066.1:p.Ile160=
ENST00000642892.1:c.480T>A	ENSP00000494165.1:p.Ile160=
ENST00000643342.1:c.282T>A
ENST00000643439.1:c.*949T>A	ENSP00000495849.1:n.*949T>A
ENST00000643479.1:n.1395T>A
ENST00000643516.1:c.718T>A
ENST00000644218.1:c.1020T>A	ENSP00000493574.1:p.Ile340=
ENST00000644683.1:c.*662T>A	ENSP00000494085.1:n.*662T>A
ENST00000644810.1:c.930T>A	ENSP00000495895.1:p.Ile310=
ENST00000644831.1:n.1385T>A
ENST00000644933.1:c.*75T>A	ENSP00000496133.1:n.*75T>A
ENST00000645285.1:c.*75T>A	ENSP00000495058.1:n.*75T>A
ENST00000645331.1:n.2414T>A
ENST00000645620.1:c.480T>A	ENSP00000493657.1:p.Ile160=
ENST00000646691.1:n.984T>A
ENST00000646777.1:n.1542T>A
ENST00000647016.1:n.1689T>A
ENST00000647152.1:c.480T>A	ENSP00000495893.1:p.Ile160=
ENST00000647209.1:c.*1078T>A	ENSP00000495558.1:n.*1078T>A
ENST00000647346.1:n.2229T>A
ENST00000299427.10:c.1209T>A	ENSP00000299427.6:p.Ile403=
ENST00000524924.1:n.164T>A
ENST00000532191.1:n.262T>A
ENST00000533371.5:c.480T>A	ENSP00000437066.1:p.Ile160=
ENST00000611494.4:c.1209T>A	ENSP00000484546.1:p.Ile403=
NM_000391.3:c.1209T>A	NP_000382.3:p.Ile403=
NM_000391.4:c.1209T>A MANE Select	NP_000382.3:p.Ile403=