Canonical Allele Identifier: CA5858898

Gene: TPP1

Linked Data

• ClinVar Variation Id: 842671
• ClinVar RCV Id: RCV001832431 ; RCV002552574
• dbSNP Id: rs550590502
• ExAC: 11:6638330 G / A
• gnomAD v2: 11-6638330-G-A
• gnomAD v3: 11-6617099-G-A
• gnomAD v4: 11-6617099-G-A
• MyVariant Identifiers: chr11:g.6638330G>A (hg19) ; chr11:g.6617099G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617099G>A , CM000673.2:g.6617099G>A	GRCh38
NC_000011.9:g.6638330G>A , CM000673.1:g.6638330G>A	GRCh37
NC_000011.8:g.6594906G>A	NCBI36
NG_008653.1:g.7363C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.449C>T	ENSP00000507321.1:p.Pro150Leu
ENST00000299427.12:c.563C>T MANE Select	ENSP00000299427.6:p.Pro188Leu
ENST00000428886.7:n.798C>T
ENST00000436873.7:c.312+202C>T
ENST00000524788.2:n.1722C>T
ENST00000524903.2:n.1838C>T
ENST00000528807.2:n.219C>T
ENST00000530040.2:n.479+260C>T
ENST00000533371.6:c.-167C>T	ENSP00000437066.1:n.-167C>T
ENST00000534644.6:n.511C>T
ENST00000642892.1:c.-167C>T	ENSP00000494165.1:n.-167C>T
ENST00000643439.1:c.*303C>T	ENSP00000495849.1:n.*303C>T
ENST00000643479.1:n.592C>T
ENST00000643516.1:c.395+202C>T
ENST00000644151.1:n.2002C>T
ENST00000644218.1:c.563C>T	ENSP00000493574.1:p.Pro188Leu
ENST00000644683.1:c.*16C>T	ENSP00000494085.1:n.*16C>T
ENST00000644810.1:c.284C>T	ENSP00000495895.1:p.Pro95Leu
ENST00000644831.1:n.739C>T
ENST00000644933.1:c.-167C>T	ENSP00000496133.1:n.-167C>T
ENST00000645020.1:n.1738C>T
ENST00000645285.1:c.-167C>T	ENSP00000495058.1:n.-167C>T
ENST00000645331.1:n.929C>T
ENST00000645620.1:c.-167C>T	ENSP00000493657.1:n.-167C>T
ENST00000646777.1:n.739C>T
ENST00000647016.1:n.1043C>T
ENST00000647152.1:c.-167C>T	ENSP00000495893.1:n.-167C>T
ENST00000647209.1:c.*432C>T	ENSP00000495558.1:n.*432C>T
ENST00000647346.1:n.1583C>T
ENST00000299427.10:c.563C>T	ENSP00000299427.6:p.Pro188Leu
ENST00000428886.6:n.732C>T
ENST00000436873.6:c.450+260C>T	ENSP00000398136.2:n.450+260C>T
ENST00000524788.1:n.263C>T
ENST00000528571.5:c.*303C>T	ENSP00000434647.1:n.*303C>T
ENST00000528807.1:n.113C>T
ENST00000533371.5:c.-167C>T	ENSP00000437066.1:n.-167C>T
ENST00000534644.5:n.548C>T
ENST00000611494.4:c.563C>T	ENSP00000484546.1:p.Pro188Leu
NM_000391.3:c.563C>T	NP_000382.3:p.Pro188Leu
NM_000391.4:c.563C>T MANE Select	NP_000382.3:p.Pro188Leu