Canonical Allele Identifier: CA379471929

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635784T>A (hg19) ; chr11:g.6614553T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614553T>A , CM000673.2:g.6614553T>A	GRCh38
NC_000011.9:g.6635784T>A , CM000673.1:g.6635784T>A	GRCh37
NC_000011.8:g.6592360T>A	NCBI36
NG_008653.1:g.9909A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1571A>T	ENSP00000507321.1:p.Asn524Ile
ENST00000299427.12:c.1685A>T MANE Select	ENSP00000299427.6:p.Asn562Ile
ENST00000524611.2:n.724A>T
ENST00000533371.6:c.956A>T	ENSP00000437066.1:p.Asn319Ile
ENST00000642892.1:c.956A>T	ENSP00000494165.1:p.Asn319Ile
ENST00000643342.1:c.758A>T
ENST00000643439.1:c.*1425A>T	ENSP00000495849.1:n.*1425A>T
ENST00000643479.1:n.1871A>T
ENST00000643516.1:c.1194A>T
ENST00000644218.1:c.1496A>T	ENSP00000493574.1:p.Asn499Ile
ENST00000644683.1:c.*1138A>T	ENSP00000494085.1:n.*1138A>T
ENST00000644810.1:c.1406A>T	ENSP00000495895.1:p.Asn469Ile
ENST00000644831.1:n.1861A>T
ENST00000644933.1:c.*551A>T	ENSP00000496133.1:n.*551A>T
ENST00000645285.1:c.*551A>T	ENSP00000495058.1:n.*551A>T
ENST00000645331.1:n.2890A>T
ENST00000645620.1:c.956A>T	ENSP00000493657.1:p.Asn319Ile
ENST00000646691.1:n.1572A>T
ENST00000646777.1:n.2018A>T
ENST00000647016.1:n.2165A>T
ENST00000647152.1:c.956A>T	ENSP00000495893.1:p.Asn319Ile
ENST00000647209.1:c.*1554A>T	ENSP00000495558.1:n.*1554A>T
ENST00000647346.1:n.2705A>T
ENST00000299427.10:c.1685A>T	ENSP00000299427.6:p.Asn562Ile
ENST00000533371.5:c.956A>T	ENSP00000437066.1:p.Asn319Ile
ENST00000611494.4:c.*13A>T	ENSP00000484546.1:n.*13A>T
NM_000391.3:c.1685A>T	NP_000382.3:p.Asn562Ile
NM_000391.4:c.1685A>T MANE Select	NP_000382.3:p.Asn562Ile