Canonical Allele Identifier: CA472768984

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614561-A-G
• MyVariant Identifiers: chr11:g.6635792A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614561A>G , CM000673.2:g.6614561A>G	GRCh38
NC_000011.9:g.6635792A>G , CM000673.1:g.6635792A>G	GRCh37
NC_000011.8:g.6592368A>G	NCBI36
NG_008653.1:g.9901T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1563T>C	ENSP00000507321.1:p.Thr521=
ENST00000299427.12:c.1677T>C MANE Select	ENSP00000299427.6:p.Thr559=
ENST00000524611.2:n.716T>C
ENST00000533371.6:c.948T>C	ENSP00000437066.1:p.Thr316=
ENST00000642892.1:c.948T>C	ENSP00000494165.1:p.Thr316=
ENST00000643342.1:c.750T>C
ENST00000643439.1:c.*1417T>C	ENSP00000495849.1:n.*1417T>C
ENST00000643479.1:n.1863T>C
ENST00000643516.1:c.1186T>C
ENST00000644218.1:c.1488T>C	ENSP00000493574.1:p.Thr496=
ENST00000644683.1:c.*1130T>C	ENSP00000494085.1:n.*1130T>C
ENST00000644810.1:c.1398T>C	ENSP00000495895.1:p.Thr466=
ENST00000644831.1:n.1853T>C
ENST00000644933.1:c.*543T>C	ENSP00000496133.1:n.*543T>C
ENST00000645285.1:c.*543T>C	ENSP00000495058.1:n.*543T>C
ENST00000645331.1:n.2882T>C
ENST00000645620.1:c.948T>C	ENSP00000493657.1:p.Thr316=
ENST00000646691.1:n.1564T>C
ENST00000646777.1:n.2010T>C
ENST00000647016.1:n.2157T>C
ENST00000647152.1:c.948T>C	ENSP00000495893.1:p.Thr316=
ENST00000647209.1:c.*1546T>C	ENSP00000495558.1:n.*1546T>C
ENST00000647346.1:n.2697T>C
ENST00000299427.10:c.1677T>C	ENSP00000299427.6:p.Thr559=
ENST00000533371.5:c.948T>C	ENSP00000437066.1:p.Thr316=
ENST00000611494.4:c.*5T>C	ENSP00000484546.1:n.*5T>C
NM_000391.3:c.1677T>C	NP_000382.3:p.Thr559=
NM_000391.4:c.1677T>C MANE Select	NP_000382.3:p.Thr559=