Canonical Allele Identifier: CA379472975

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615498-C-T
• MyVariant Identifiers: chr11:g.6636729C>T (hg19) ; chr11:g.6615498C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615498C>T , CM000673.2:g.6615498C>T	GRCh38
NC_000011.9:g.6636729C>T , CM000673.1:g.6636729C>T	GRCh37
NC_000011.8:g.6593305C>T	NCBI36
NG_008653.1:g.8964G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1096G>A	ENSP00000507321.1:p.Val366Ile
ENST00000299427.12:c.1210G>A MANE Select	ENSP00000299427.6:p.Val404Ile
ENST00000436873.7:c.447G>A
ENST00000524924.2:n.330G>A
ENST00000533371.6:c.481G>A	ENSP00000437066.1:p.Val161Ile
ENST00000642892.1:c.481G>A	ENSP00000494165.1:p.Val161Ile
ENST00000643342.1:c.283G>A
ENST00000643439.1:c.*950G>A	ENSP00000495849.1:n.*950G>A
ENST00000643479.1:n.1396G>A
ENST00000643516.1:c.719G>A
ENST00000644218.1:c.1021G>A	ENSP00000493574.1:p.Val341Ile
ENST00000644683.1:c.*663G>A	ENSP00000494085.1:n.*663G>A
ENST00000644810.1:c.931G>A	ENSP00000495895.1:p.Val311Ile
ENST00000644831.1:n.1386G>A
ENST00000644933.1:c.*76G>A	ENSP00000496133.1:n.*76G>A
ENST00000645285.1:c.*76G>A	ENSP00000495058.1:n.*76G>A
ENST00000645331.1:n.2415G>A
ENST00000645620.1:c.481G>A	ENSP00000493657.1:p.Val161Ile
ENST00000646691.1:n.985G>A
ENST00000646777.1:n.1543G>A
ENST00000647016.1:n.1690G>A
ENST00000647152.1:c.481G>A	ENSP00000495893.1:p.Val161Ile
ENST00000647209.1:c.*1079G>A	ENSP00000495558.1:n.*1079G>A
ENST00000647346.1:n.2230G>A
ENST00000299427.10:c.1210G>A	ENSP00000299427.6:p.Val404Ile
ENST00000524924.1:n.165G>A
ENST00000532191.1:n.263G>A
ENST00000533371.5:c.481G>A	ENSP00000437066.1:p.Val161Ile
ENST00000611494.4:c.1210G>A	ENSP00000484546.1:p.Val404Ile
NM_000391.3:c.1210G>A	NP_000382.3:p.Val404Ile
NM_000391.4:c.1210G>A MANE Select	NP_000382.3:p.Val404Ile