Canonical Allele Identifier: CA379472711

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636499T>A (hg19) ; chr11:g.6615268T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615268T>A , CM000673.2:g.6615268T>A	GRCh38
NC_000011.9:g.6636499T>A , CM000673.1:g.6636499T>A	GRCh37
NC_000011.8:g.6593075T>A	NCBI36
NG_008653.1:g.9194A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1214A>T	ENSP00000507321.1:p.Asn405Ile
ENST00000299427.12:c.1328A>T MANE Select	ENSP00000299427.6:p.Asn443Ile
ENST00000524611.2:n.188A>T
ENST00000524924.2:n.448A>T
ENST00000533371.6:c.599A>T	ENSP00000437066.1:p.Asn200Ile
ENST00000642892.1:c.599A>T	ENSP00000494165.1:p.Asn200Ile
ENST00000643342.1:c.401A>T
ENST00000643439.1:c.*1068A>T	ENSP00000495849.1:n.*1068A>T
ENST00000643479.1:n.1514A>T
ENST00000643516.1:c.837A>T
ENST00000644218.1:c.1139A>T	ENSP00000493574.1:p.Asn380Ile
ENST00000644683.1:c.*781A>T	ENSP00000494085.1:n.*781A>T
ENST00000644810.1:c.1049A>T	ENSP00000495895.1:p.Asn350Ile
ENST00000644831.1:n.1504A>T
ENST00000644933.1:c.*194A>T	ENSP00000496133.1:n.*194A>T
ENST00000645285.1:c.*194A>T	ENSP00000495058.1:n.*194A>T
ENST00000645331.1:n.2533A>T
ENST00000645620.1:c.599A>T	ENSP00000493657.1:p.Asn200Ile
ENST00000646691.1:n.1215A>T
ENST00000646777.1:n.1661A>T
ENST00000647016.1:n.1808A>T
ENST00000647152.1:c.599A>T	ENSP00000495893.1:p.Asn200Ile
ENST00000647209.1:c.*1197A>T	ENSP00000495558.1:n.*1197A>T
ENST00000647346.1:n.2348A>T
ENST00000299427.10:c.1328A>T	ENSP00000299427.6:p.Asn443Ile
ENST00000524611.1:n.206A>T
ENST00000524924.1:n.283A>T
ENST00000532191.1:n.381A>T
ENST00000533371.5:c.599A>T	ENSP00000437066.1:p.Asn200Ile
ENST00000611494.4:c.1328A>T	ENSP00000484546.1:p.Asn443Ile
NM_000391.3:c.1328A>T	NP_000382.3:p.Asn443Ile
NM_000391.4:c.1328A>T MANE Select	NP_000382.3:p.Asn443Ile