Canonical Allele Identifier: CA379474014

Gene: TPP1

Linked Data

• ClinVar Variation Id: 451169
• ClinVar RCV Id: RCV000520590
• dbSNP Id: rs1266615275
• gnomAD v2: 11-6637552-C-T
• gnomAD v3: 11-6616321-C-T
• gnomAD v4: 11-6616321-C-T
• COSMIC: COSM3398066
• MyVariant Identifiers: chr11:g.6637552C>T (hg19) ; chr11:g.6616321C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616321C>T , CM000673.2:g.6616321C>T	GRCh38
NC_000011.9:g.6637552C>T , CM000673.1:g.6637552C>T	GRCh37
NC_000011.8:g.6594128C>T	NCBI36
NG_008653.1:g.8141G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.955G>A	ENSP00000507321.1:p.Ala319Thr
ENST00000299427.12:c.1069G>A MANE Select	ENSP00000299427.6:p.Ala357Thr
ENST00000436873.7:c.313-247G>A
ENST00000533371.6:c.340G>A	ENSP00000437066.1:p.Ala114Thr
ENST00000642892.1:c.340G>A	ENSP00000494165.1:p.Ala114Thr
ENST00000643342.1:c.159G>A
ENST00000643439.1:c.*809G>A	ENSP00000495849.1:n.*809G>A
ENST00000643479.1:n.1255G>A
ENST00000643516.1:c.578G>A
ENST00000644218.1:c.887-247G>A	ENSP00000493574.1:n.887-247G>A
ENST00000644683.1:c.*522G>A	ENSP00000494085.1:n.*522G>A
ENST00000644810.1:c.790G>A	ENSP00000495895.1:p.Ala264Thr
ENST00000644831.1:n.1245G>A
ENST00000644933.1:c.340G>A	ENSP00000496133.1:p.Ala114Thr
ENST00000645285.1:c.158-247G>A	ENSP00000495058.1:n.158-247G>A
ENST00000645331.1:n.1592G>A
ENST00000645620.1:c.340G>A	ENSP00000493657.1:p.Ala114Thr
ENST00000646691.1:n.162G>A
ENST00000646777.1:n.1402G>A
ENST00000647016.1:n.1549G>A
ENST00000647152.1:c.340G>A	ENSP00000495893.1:p.Ala114Thr
ENST00000647209.1:c.*938G>A	ENSP00000495558.1:n.*938G>A
ENST00000647346.1:n.2089G>A
ENST00000299427.10:c.1069G>A	ENSP00000299427.6:p.Ala357Thr
ENST00000533371.5:c.340G>A	ENSP00000437066.1:p.Ala114Thr
ENST00000611494.4:c.1069G>A	ENSP00000484546.1:p.Ala357Thr
NM_000391.3:c.1069G>A	NP_000382.3:p.Ala357Thr
NM_000391.4:c.1069G>A MANE Select	NP_000382.3:p.Ala357Thr