Canonical Allele Identifier: CA472922243

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636426G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615195G>T , CM000673.2:g.6615195G>T	GRCh38
NC_000011.9:g.6636426G>T , CM000673.1:g.6636426G>T	GRCh37
NC_000011.8:g.6593002G>T	NCBI36
NG_008653.1:g.9267C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1287C>A	ENSP00000507321.1:p.Pro429=
ENST00000299427.12:c.1401C>A MANE Select	ENSP00000299427.6:p.Pro467=
ENST00000524611.2:n.261C>A
ENST00000524924.2:n.521C>A
ENST00000533371.6:c.672C>A	ENSP00000437066.1:p.Pro224=
ENST00000642892.1:c.672C>A	ENSP00000494165.1:p.Pro224=
ENST00000643342.1:c.474C>A
ENST00000643439.1:c.*1141C>A	ENSP00000495849.1:n.*1141C>A
ENST00000643479.1:n.1587C>A
ENST00000643516.1:c.910C>A
ENST00000644218.1:c.1212C>A	ENSP00000493574.1:p.Pro404=
ENST00000644683.1:c.*854C>A	ENSP00000494085.1:n.*854C>A
ENST00000644810.1:c.1122C>A	ENSP00000495895.1:p.Pro374=
ENST00000644831.1:n.1577C>A
ENST00000644933.1:c.*267C>A	ENSP00000496133.1:n.*267C>A
ENST00000645285.1:c.*267C>A	ENSP00000495058.1:n.*267C>A
ENST00000645331.1:n.2606C>A
ENST00000645620.1:c.672C>A	ENSP00000493657.1:p.Pro224=
ENST00000646691.1:n.1288C>A
ENST00000646777.1:n.1734C>A
ENST00000647016.1:n.1881C>A
ENST00000647152.1:c.672C>A	ENSP00000495893.1:p.Pro224=
ENST00000647209.1:c.*1270C>A	ENSP00000495558.1:n.*1270C>A
ENST00000647346.1:n.2421C>A
ENST00000299427.10:c.1401C>A	ENSP00000299427.6:p.Pro467=
ENST00000524611.1:n.279C>A
ENST00000533371.5:c.672C>A	ENSP00000437066.1:p.Pro224=
ENST00000611494.4:c.1401C>A	ENSP00000484546.1:p.Pro467=
NM_000391.3:c.1401C>A	NP_000382.3:p.Pro467=
NM_000391.4:c.1401C>A MANE Select	NP_000382.3:p.Pro467=