Canonical Allele Identifier: CA379472566

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636432T>A (hg19) ; chr11:g.6615201T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615201T>A , CM000673.2:g.6615201T>A	GRCh38
NC_000011.9:g.6636432T>A , CM000673.1:g.6636432T>A	GRCh37
NC_000011.8:g.6593008T>A	NCBI36
NG_008653.1:g.9261A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1281A>T	ENSP00000507321.1:p.Arg427Ser
ENST00000299427.12:c.1395A>T MANE Select	ENSP00000299427.6:p.Arg465Ser
ENST00000524611.2:n.255A>T
ENST00000524924.2:n.515A>T
ENST00000533371.6:c.666A>T	ENSP00000437066.1:p.Arg222Ser
ENST00000642892.1:c.666A>T	ENSP00000494165.1:p.Arg222Ser
ENST00000643342.1:c.468A>T
ENST00000643439.1:c.*1135A>T	ENSP00000495849.1:n.*1135A>T
ENST00000643479.1:n.1581A>T
ENST00000643516.1:c.904A>T
ENST00000644218.1:c.1206A>T	ENSP00000493574.1:p.Arg402Ser
ENST00000644683.1:c.*848A>T	ENSP00000494085.1:n.*848A>T
ENST00000644810.1:c.1116A>T	ENSP00000495895.1:p.Arg372Ser
ENST00000644831.1:n.1571A>T
ENST00000644933.1:c.*261A>T	ENSP00000496133.1:n.*261A>T
ENST00000645285.1:c.*261A>T	ENSP00000495058.1:n.*261A>T
ENST00000645331.1:n.2600A>T
ENST00000645620.1:c.666A>T	ENSP00000493657.1:p.Arg222Ser
ENST00000646691.1:n.1282A>T
ENST00000646777.1:n.1728A>T
ENST00000647016.1:n.1875A>T
ENST00000647152.1:c.666A>T	ENSP00000495893.1:p.Arg222Ser
ENST00000647209.1:c.*1264A>T	ENSP00000495558.1:n.*1264A>T
ENST00000647346.1:n.2415A>T
ENST00000299427.10:c.1395A>T	ENSP00000299427.6:p.Arg465Ser
ENST00000524611.1:n.273A>T
ENST00000533371.5:c.666A>T	ENSP00000437066.1:p.Arg222Ser
ENST00000611494.4:c.1395A>T	ENSP00000484546.1:p.Arg465Ser
NM_000391.3:c.1395A>T	NP_000382.3:p.Arg465Ser
NM_000391.4:c.1395A>T MANE Select	NP_000382.3:p.Arg465Ser