Canonical Allele Identifier: CA217323892

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1994696
• ClinVar RCV Id: RCV002819111
• dbSNP Id: rs986709245
• gnomAD v4: 11-6617321-A-G
• MyVariant Identifiers: chr11:g.6638552A>G (hg19) ; chr11:g.6617321A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617321A>G , CM000673.2:g.6617321A>G	GRCh38
NC_000011.9:g.6638552A>G , CM000673.1:g.6638552A>G	GRCh37
NC_000011.8:g.6595128A>G	NCBI36
NG_008653.1:g.7141T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.374T>C	ENSP00000507321.1:p.Leu125Ser
ENST00000299427.12:c.488T>C MANE Select	ENSP00000299427.6:p.Leu163Ser
ENST00000428886.7:n.576T>C
ENST00000436873.7:c.292T>C
ENST00000524788.2:n.1500T>C
ENST00000524903.2:n.1616T>C
ENST00000528571.6:c.*228T>C	ENSP00000434647.1:n.*228T>C
ENST00000528807.2:n.144T>C
ENST00000530040.2:n.479+38T>C
ENST00000533371.6:c.-242T>C	ENSP00000437066.1:n.-242T>C
ENST00000534644.6:n.456+33T>C
ENST00000642892.1:c.-222+33T>C	ENSP00000494165.1:n.-222+33T>C
ENST00000643439.1:c.*228T>C	ENSP00000495849.1:n.*228T>C
ENST00000643479.1:n.517T>C
ENST00000643516.1:c.375T>C
ENST00000644151.1:n.1780T>C
ENST00000644218.1:c.488T>C	ENSP00000493574.1:p.Leu163Ser
ENST00000644683.1:c.450+38T>C	ENSP00000494085.1:n.450+38T>C
ENST00000644810.1:c.230-168T>C	ENSP00000495895.1:n.230-168T>C
ENST00000644831.1:n.517T>C
ENST00000644933.1:c.-242T>C	ENSP00000496133.1:n.-242T>C
ENST00000645020.1:n.1516T>C
ENST00000645285.1:c.-242T>C	ENSP00000495058.1:n.-242T>C
ENST00000645331.1:n.707T>C
ENST00000645620.1:c.-222+38T>C	ENSP00000493657.1:n.-222+38T>C
ENST00000646777.1:n.517T>C
ENST00000647016.1:n.821T>C
ENST00000647152.1:c.-242T>C	ENSP00000495893.1:n.-242T>C
ENST00000647209.1:c.*357T>C	ENSP00000495558.1:n.*357T>C
ENST00000647346.1:n.1508T>C
ENST00000299427.10:c.488T>C	ENSP00000299427.6:p.Leu163Ser
ENST00000428886.6:n.510T>C
ENST00000436873.6:c.450+38T>C	ENSP00000398136.2:n.450+38T>C
ENST00000524788.1:n.41T>C
ENST00000528571.5:c.*228T>C	ENSP00000434647.1:n.*228T>C
ENST00000533371.5:c.-242T>C	ENSP00000437066.1:n.-242T>C
ENST00000534644.5:n.473T>C
ENST00000611494.4:c.488T>C	ENSP00000484546.1:p.Leu163Ser
NM_000391.3:c.488T>C	NP_000382.3:p.Leu163Ser
NM_000391.4:c.488T>C MANE Select	NP_000382.3:p.Leu163Ser