Canonical Allele Identifier: CA217324244

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1576803
• ClinVar RCV Id: RCV002085559
• dbSNP Id: rs966258705
• gnomAD v2: 11-6638925-C-T
• gnomAD v3: 11-6617694-C-T
• gnomAD v4: 11-6617694-C-T
• MyVariant Identifiers: chr11:g.6638925C>T (hg19) ; chr11:g.6617694C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617694C>T , CM000673.2:g.6617694C>T	GRCh38
NC_000011.9:g.6638925C>T , CM000673.1:g.6638925C>T	GRCh37
NC_000011.8:g.6595501C>T	NCBI36
NG_008653.1:g.6768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.198G>A	ENSP00000507321.1:p.Leu66=
ENST00000299427.12:c.312G>A MANE Select	ENSP00000299427.6:p.Leu104=
ENST00000428886.7:n.400G>A
ENST00000436873.7:c.116G>A
ENST00000524788.2:n.1324G>A
ENST00000524903.2:n.1440G>A
ENST00000528571.6:c.*52G>A	ENSP00000434647.1:n.*52G>A
ENST00000530040.2:n.341G>A
ENST00000533371.6:c.-418G>A	ENSP00000437066.1:n.-418G>A
ENST00000534644.6:n.313G>A
ENST00000642892.1:c.-365G>A	ENSP00000494165.1:n.-365G>A
ENST00000643439.1:c.*52G>A	ENSP00000495849.1:n.*52G>A
ENST00000643479.1:n.341G>A
ENST00000643516.1:c.199G>A
ENST00000644151.1:n.1604G>A
ENST00000644218.1:c.312G>A	ENSP00000493574.1:p.Leu104=
ENST00000644683.1:c.312G>A	ENSP00000494085.1:p.Leu104=
ENST00000644810.1:c.230-541G>A	ENSP00000495895.1:n.230-541G>A
ENST00000644831.1:n.341G>A
ENST00000644933.1:c.-418G>A	ENSP00000496133.1:n.-418G>A
ENST00000645020.1:n.1340G>A
ENST00000645285.1:c.-418G>A	ENSP00000495058.1:n.-418G>A
ENST00000645331.1:n.334G>A
ENST00000645620.1:c.-360G>A	ENSP00000493657.1:n.-360G>A
ENST00000646777.1:n.341G>A
ENST00000647016.1:n.645G>A
ENST00000647152.1:c.-418G>A	ENSP00000495893.1:n.-418G>A
ENST00000647209.1:c.*181G>A	ENSP00000495558.1:n.*181G>A
ENST00000647346.1:n.1332G>A
ENST00000299427.10:c.312G>A	ENSP00000299427.6:p.Leu104=
ENST00000428886.6:n.334G>A
ENST00000436873.6:c.312G>A	ENSP00000398136.2:p.Leu104=
ENST00000528571.5:c.*52G>A	ENSP00000434647.1:n.*52G>A
ENST00000530040.1:n.424G>A
ENST00000533371.5:c.-418G>A	ENSP00000437066.1:n.-418G>A
ENST00000534644.5:n.297G>A
ENST00000611494.4:c.312G>A	ENSP00000484546.1:p.Leu104=
NM_000391.3:c.312G>A	NP_000382.3:p.Leu104=
NM_000391.4:c.312G>A MANE Select	NP_000382.3:p.Leu104=