Canonical Allele Identifier: CA379475495

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1011442
• ClinVar RCV Id: RCV001309247 ; RCV001835516
• dbSNP Id: rs1481131397
• gnomAD v3: 11-6617069-A-G
• gnomAD v4: 11-6617069-A-G
• MyVariant Identifiers: chr11:g.6638300A>G (hg19) ; chr11:g.6617069A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617069A>G , CM000673.2:g.6617069A>G	GRCh38
NC_000011.9:g.6638300A>G , CM000673.1:g.6638300A>G	GRCh37
NC_000011.8:g.6594876A>G	NCBI36
NG_008653.1:g.7393T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.479T>C	ENSP00000507321.1:p.Leu160Pro
ENST00000299427.12:c.593T>C MANE Select	ENSP00000299427.6:p.Leu198Pro
ENST00000428886.7:n.828T>C
ENST00000436873.7:c.312+232T>C
ENST00000524788.2:n.1752T>C
ENST00000524903.2:n.1868T>C
ENST00000528807.2:n.249T>C
ENST00000530040.2:n.479+290T>C
ENST00000533371.6:c.-137T>C	ENSP00000437066.1:n.-137T>C
ENST00000534644.6:n.541T>C
ENST00000642892.1:c.-137T>C	ENSP00000494165.1:n.-137T>C
ENST00000643439.1:c.*333T>C	ENSP00000495849.1:n.*333T>C
ENST00000643479.1:n.622T>C
ENST00000643516.1:c.395+232T>C
ENST00000644151.1:n.2032T>C
ENST00000644218.1:c.593T>C	ENSP00000493574.1:p.Leu198Pro
ENST00000644683.1:c.*46T>C	ENSP00000494085.1:n.*46T>C
ENST00000644810.1:c.314T>C	ENSP00000495895.1:p.Leu105Pro
ENST00000644831.1:n.769T>C
ENST00000644933.1:c.-137T>C	ENSP00000496133.1:n.-137T>C
ENST00000645020.1:n.1768T>C
ENST00000645285.1:c.-137T>C	ENSP00000495058.1:n.-137T>C
ENST00000645331.1:n.959T>C
ENST00000645620.1:c.-137T>C	ENSP00000493657.1:n.-137T>C
ENST00000646777.1:n.769T>C
ENST00000647016.1:n.1073T>C
ENST00000647152.1:c.-137T>C	ENSP00000495893.1:n.-137T>C
ENST00000647209.1:c.*462T>C	ENSP00000495558.1:n.*462T>C
ENST00000647346.1:n.1613T>C
ENST00000299427.10:c.593T>C	ENSP00000299427.6:p.Leu198Pro
ENST00000428886.6:n.762T>C
ENST00000436873.6:c.450+290T>C	ENSP00000398136.2:n.450+290T>C
ENST00000524788.1:n.293T>C
ENST00000528571.5:c.*333T>C	ENSP00000434647.1:n.*333T>C
ENST00000528807.1:n.143T>C
ENST00000533371.5:c.-137T>C	ENSP00000437066.1:n.-137T>C
ENST00000534644.5:n.578T>C
ENST00000611494.4:c.593T>C	ENSP00000484546.1:p.Leu198Pro
NM_000391.3:c.593T>C	NP_000382.3:p.Leu198Pro
NM_000391.4:c.593T>C MANE Select	NP_000382.3:p.Leu198Pro