Canonical Allele Identifier: CA472922227

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1566073
• ClinVar RCV Id: RCV002220197
• dbSNP Id: rs776302678
• gnomAD v4: 11-6615174-G-A
• MyVariant Identifiers: chr11:g.6636405G>A (hg19)

Genomic Alleles

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

Transcript Alleles

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