Canonical Allele Identifier: CA379472003

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635815T>G (hg19) ; chr11:g.6614584T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614584T>G , CM000673.2:g.6614584T>G	GRCh38
NC_000011.9:g.6635815T>G , CM000673.1:g.6635815T>G	GRCh37
NC_000011.8:g.6592391T>G	NCBI36
NG_008653.1:g.9878A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1540A>C	ENSP00000507321.1:p.Asn514His
ENST00000299427.12:c.1654A>C MANE Select	ENSP00000299427.6:p.Asn552His
ENST00000524611.2:n.693A>C
ENST00000533371.6:c.925A>C	ENSP00000437066.1:p.Asn309His
ENST00000642892.1:c.925A>C	ENSP00000494165.1:p.Asn309His
ENST00000643342.1:c.727A>C
ENST00000643439.1:c.*1394A>C	ENSP00000495849.1:n.*1394A>C
ENST00000643479.1:n.1840A>C
ENST00000643516.1:c.1163A>C
ENST00000644218.1:c.1465A>C	ENSP00000493574.1:p.Asn489His
ENST00000644683.1:c.*1107A>C	ENSP00000494085.1:n.*1107A>C
ENST00000644810.1:c.1375A>C	ENSP00000495895.1:p.Asn459His
ENST00000644831.1:n.1830A>C
ENST00000644933.1:c.*520A>C	ENSP00000496133.1:n.*520A>C
ENST00000645285.1:c.*520A>C	ENSP00000495058.1:n.*520A>C
ENST00000645331.1:n.2859A>C
ENST00000645620.1:c.925A>C	ENSP00000493657.1:p.Asn309His
ENST00000646691.1:n.1541A>C
ENST00000646777.1:n.1987A>C
ENST00000647016.1:n.2134A>C
ENST00000647152.1:c.925A>C	ENSP00000495893.1:p.Asn309His
ENST00000647209.1:c.*1523A>C	ENSP00000495558.1:n.*1523A>C
ENST00000647346.1:n.2674A>C
ENST00000299427.10:c.1654A>C	ENSP00000299427.6:p.Asn552His
ENST00000533371.5:c.925A>C	ENSP00000437066.1:p.Asn309His
ENST00000611494.4:c.1653A>C	ENSP00000484546.1:p.Pro551=
NM_000391.3:c.1654A>C	NP_000382.3:p.Asn552His
NM_000391.4:c.1654A>C MANE Select	NP_000382.3:p.Asn552His