Canonical Allele Identifier: CA319182

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2643
• ClinVar RCV Id: RCV000002762 ; RCV000189769 ; RCV000210605 ; RCV000230952 ; RCV000763267 ; RCV001813939 ; RCV004554580
• dbSNP Id: rs119455955
• ExAC: 11:6638271 G / A
• gnomAD v2: 11-6638271-G-A
• gnomAD v3: 11-6617040-G-A
• gnomAD v4: 11-6617040-G-A
• COSMIC: COSM3718418
• MyVariant Identifiers: chr11:g.6638271G>A (hg19) ; chr11:g.6617040G>A (hg38)
• PubMed: PMID:9295267 ; PMID:9788728 ; PMID:10330339 ; PMID:11017954 ; PMID:11071145 ; PMID:12376936 ; PMID:12414822 ; PMID:12488460 ; PMID:12796825 ; PMID:12950156 ; PMID:15317752 ; PMID:16782851 ; PMID:16814585 ; PMID:17679671 ; PMID:17959406 ; PMID:18283468 ; PMID:18473686 ; PMID:18684116 ; PMID:19201763 ; PMID:19793312 ; PMID:20301601 ; PMID:21990111 ; PMID:22245569 ; PMID:23266810 ; PMID:23418007 ; PMID:23539563 ; PMID:26075876 ; PMID:26795593 ; PMID:27407112 ; PMID:27553520

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617040G>A , CM000673.2:g.6617040G>A	GRCh38
NC_000011.9:g.6638271G>A , CM000673.1:g.6638271G>A	GRCh37
NC_000011.8:g.6594847G>A	NCBI36
NG_008653.1:g.7422C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.508C>T	ENSP00000507321.1:p.Arg170Ter
ENST00000299427.12:c.622C>T MANE Select	ENSP00000299427.6:p.Arg208Ter
ENST00000436873.7:c.312+261C>T
ENST00000524788.2:n.1781C>T
ENST00000524903.2:n.1897C>T
ENST00000528807.2:n.278C>T
ENST00000530040.2:n.479+319C>T
ENST00000533371.6:c.-108C>T	ENSP00000437066.1:n.-108C>T
ENST00000534644.6:n.570C>T
ENST00000642892.1:c.-108C>T	ENSP00000494165.1:n.-108C>T
ENST00000643439.1:c.*362C>T	ENSP00000495849.1:n.*362C>T
ENST00000643479.1:n.651C>T
ENST00000643516.1:c.395+261C>T
ENST00000644151.1:n.2061C>T
ENST00000644218.1:c.622C>T	ENSP00000493574.1:p.Arg208Ter
ENST00000644683.1:c.*75C>T	ENSP00000494085.1:n.*75C>T
ENST00000644810.1:c.343C>T	ENSP00000495895.1:p.Arg115Ter
ENST00000644831.1:n.798C>T
ENST00000644933.1:c.-108C>T	ENSP00000496133.1:n.-108C>T
ENST00000645020.1:n.1797C>T
ENST00000645285.1:c.-108C>T	ENSP00000495058.1:n.-108C>T
ENST00000645331.1:n.988C>T
ENST00000645620.1:c.-108C>T	ENSP00000493657.1:n.-108C>T
ENST00000646777.1:n.798C>T
ENST00000647016.1:n.1102C>T
ENST00000647152.1:c.-108C>T	ENSP00000495893.1:n.-108C>T
ENST00000647209.1:c.*491C>T	ENSP00000495558.1:n.*491C>T
ENST00000647346.1:n.1642C>T
ENST00000299427.10:c.622C>T	ENSP00000299427.6:p.Arg208Ter
ENST00000428886.6:n.791C>T
ENST00000436873.6:c.450+319C>T	ENSP00000398136.2:n.450+319C>T
ENST00000524788.1:n.322C>T
ENST00000528571.5:c.*362C>T	ENSP00000434647.1:n.*362C>T
ENST00000528807.1:n.172C>T
ENST00000533371.5:c.-108C>T	ENSP00000437066.1:n.-108C>T
ENST00000534644.5:n.607C>T
ENST00000611494.4:c.622C>T	ENSP00000484546.1:p.Arg208Ter
NM_000391.3:c.622C>T	NP_000382.3:p.Arg208Ter
NM_000391.4:c.622C>T MANE Select	NP_000382.3:p.Arg208Ter