Canonical Allele Identifier: CA379471918

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635778C>A (hg19) ; chr11:g.6614547C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614547C>A , CM000673.2:g.6614547C>A	GRCh38
NC_000011.9:g.6635778C>A , CM000673.1:g.6635778C>A	GRCh37
NC_000011.8:g.6592354C>A	NCBI36
NG_008653.1:g.9915G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1577G>T	ENSP00000507321.1:p.Ter526Leu
ENST00000299427.12:c.1691G>T MANE Select	ENSP00000299427.6:p.Ter564Leu
ENST00000524611.2:n.730G>T
ENST00000533371.6:c.962G>T	ENSP00000437066.1:p.Ter321Leu
ENST00000642892.1:c.962G>T	ENSP00000494165.1:p.Ter321Leu
ENST00000643342.1:c.764G>T
ENST00000643439.1:c.*1431G>T	ENSP00000495849.1:n.*1431G>T
ENST00000643479.1:n.1877G>T
ENST00000643516.1:c.1200G>T
ENST00000644218.1:c.1502G>T	ENSP00000493574.1:p.Ter501Leu
ENST00000644683.1:c.*1144G>T	ENSP00000494085.1:n.*1144G>T
ENST00000644810.1:c.1412G>T	ENSP00000495895.1:p.Ter471Leu
ENST00000644831.1:n.1867G>T
ENST00000644933.1:c.*557G>T	ENSP00000496133.1:n.*557G>T
ENST00000645285.1:c.*557G>T	ENSP00000495058.1:n.*557G>T
ENST00000645331.1:n.2896G>T
ENST00000645620.1:c.962G>T	ENSP00000493657.1:p.Ter321Leu
ENST00000646691.1:n.1578G>T
ENST00000646777.1:n.2024G>T
ENST00000647016.1:n.2171G>T
ENST00000647152.1:c.962G>T	ENSP00000495893.1:p.Ter321Leu
ENST00000647209.1:c.*1560G>T	ENSP00000495558.1:n.*1560G>T
ENST00000647346.1:n.2711G>T
ENST00000299427.10:c.1691G>T	ENSP00000299427.6:p.Ter564Leu
ENST00000533371.5:c.962G>T	ENSP00000437066.1:p.Ter321Leu
ENST00000611494.4:c.*19G>T	ENSP00000484546.1:n.*19G>T
NM_000391.3:c.1691G>T	NP_000382.3:p.Ter564Leu
NM_000391.4:c.1691G>T MANE Select	NP_000382.3:p.Ter564Leu