Canonical Allele Identifier: CA319218

Gene: TPP1

Linked Data

• ClinVar Variation Id: 207596
• ClinVar RCV Id: RCV001385651 ; RCV001828011
• dbSNP Id: rs1554901472
• gnomAD v4: 11-6614638-G-A
• MyVariant Identifiers: chr11:g.6635869G>A (hg19) ; chr11:g.6614638G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614638G>A , CM000673.2:g.6614638G>A	GRCh38
NC_000011.9:g.6635869G>A , CM000673.1:g.6635869G>A	GRCh37
NC_000011.8:g.6592445G>A	NCBI36
NG_008653.1:g.9824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1486C>T	ENSP00000507321.1:p.Gln496Ter
ENST00000299427.12:c.1600C>T MANE Select	ENSP00000299427.6:p.Gln534Ter
ENST00000524611.2:n.639C>T
ENST00000524924.2:n.720C>T
ENST00000533371.6:c.871C>T	ENSP00000437066.1:p.Gln291Ter
ENST00000642892.1:c.871C>T	ENSP00000494165.1:p.Gln291Ter
ENST00000643342.1:c.673C>T
ENST00000643439.1:c.*1340C>T	ENSP00000495849.1:n.*1340C>T
ENST00000643479.1:n.1786C>T
ENST00000643516.1:c.1109C>T
ENST00000644218.1:c.1411C>T	ENSP00000493574.1:p.Gln471Ter
ENST00000644683.1:c.*1053C>T	ENSP00000494085.1:n.*1053C>T
ENST00000644810.1:c.1321C>T	ENSP00000495895.1:p.Gln441Ter
ENST00000644831.1:n.1776C>T
ENST00000644933.1:c.*466C>T	ENSP00000496133.1:n.*466C>T
ENST00000645285.1:c.*466C>T	ENSP00000495058.1:n.*466C>T
ENST00000645331.1:n.2805C>T
ENST00000645620.1:c.871C>T	ENSP00000493657.1:p.Gln291Ter
ENST00000646691.1:n.1487C>T
ENST00000646777.1:n.1933C>T
ENST00000647016.1:n.2080C>T
ENST00000647152.1:c.871C>T	ENSP00000495893.1:p.Gln291Ter
ENST00000647209.1:c.*1469C>T	ENSP00000495558.1:n.*1469C>T
ENST00000647346.1:n.2620C>T
ENST00000299427.10:c.1600C>T	ENSP00000299427.6:p.Gln534Ter
ENST00000533371.5:c.871C>T	ENSP00000437066.1:p.Gln291Ter
ENST00000611494.4:c.1600C>T	ENSP00000484546.1:p.Gln534Ter
NM_000391.3:c.1600C>T	NP_000382.3:p.Gln534Ter
NM_000391.4:c.1600C>T MANE Select	NP_000382.3:p.Gln534Ter