Canonical Allele Identifier: CA472922228

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636405G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615174G>T , CM000673.2:g.6615174G>T	GRCh38
NC_000011.9:g.6636405G>T , CM000673.1:g.6636405G>T	GRCh37
NC_000011.8:g.6592981G>T	NCBI36
NG_008653.1:g.9288C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1308C>A	ENSP00000507321.1:p.Thr436=
ENST00000299427.12:c.1422C>A MANE Select	ENSP00000299427.6:p.Thr474=
ENST00000524611.2:n.282C>A
ENST00000524924.2:n.542C>A
ENST00000533371.6:c.693C>A	ENSP00000437066.1:p.Thr231=
ENST00000642892.1:c.693C>A	ENSP00000494165.1:p.Thr231=
ENST00000643342.1:c.495C>A
ENST00000643439.1:c.*1162C>A	ENSP00000495849.1:n.*1162C>A
ENST00000643479.1:n.1608C>A
ENST00000643516.1:c.931C>A
ENST00000644218.1:c.1233C>A	ENSP00000493574.1:p.Thr411=
ENST00000644683.1:c.*875C>A	ENSP00000494085.1:n.*875C>A
ENST00000644810.1:c.1143C>A	ENSP00000495895.1:p.Thr381=
ENST00000644831.1:n.1598C>A
ENST00000644933.1:c.*288C>A	ENSP00000496133.1:n.*288C>A
ENST00000645285.1:c.*288C>A	ENSP00000495058.1:n.*288C>A
ENST00000645331.1:n.2627C>A
ENST00000645620.1:c.693C>A	ENSP00000493657.1:p.Thr231=
ENST00000646691.1:n.1309C>A
ENST00000646777.1:n.1755C>A
ENST00000647016.1:n.1902C>A
ENST00000647152.1:c.693C>A	ENSP00000495893.1:p.Thr231=
ENST00000647209.1:c.*1291C>A	ENSP00000495558.1:n.*1291C>A
ENST00000647346.1:n.2442C>A
ENST00000299427.10:c.1422C>A	ENSP00000299427.6:p.Thr474=
ENST00000524611.1:n.300C>A
ENST00000533371.5:c.693C>A	ENSP00000437066.1:p.Thr231=
ENST00000611494.4:c.1422C>A	ENSP00000484546.1:p.Thr474=
NM_000391.3:c.1422C>A	NP_000382.3:p.Thr474=
NM_000391.4:c.1422C>A MANE Select	NP_000382.3:p.Thr474=