Canonical Allele Identifier: CA16041512

Gene: TPP1

Linked Data

• ClinVar Variation Id: 370212
• ClinVar RCV Id: RCV000411513 ; RCV001814153
• dbSNP Id: rs1057516319
• gnomAD v4: 11-6615449-G-T
• MyVariant Identifiers: chr11:g.6636680G>T (hg19) ; chr11:g.6615449G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615449G>T , CM000673.2:g.6615449G>T	GRCh38
NC_000011.9:g.6636680G>T , CM000673.1:g.6636680G>T	GRCh37
NC_000011.8:g.6593256G>T	NCBI36
NG_008653.1:g.9013C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1145C>A	ENSP00000507321.1:p.Ser382Ter
ENST00000299427.12:c.1259C>A MANE Select	ENSP00000299427.6:p.Ser420Ter
ENST00000436873.7:c.496C>A
ENST00000524611.2:n.7C>A
ENST00000524924.2:n.379C>A
ENST00000533371.6:c.530C>A	ENSP00000437066.1:p.Ser177Ter
ENST00000642892.1:c.530C>A	ENSP00000494165.1:p.Ser177Ter
ENST00000643342.1:c.332C>A
ENST00000643439.1:c.*999C>A	ENSP00000495849.1:n.*999C>A
ENST00000643479.1:n.1445C>A
ENST00000643516.1:c.768C>A
ENST00000644218.1:c.1070C>A	ENSP00000493574.1:p.Ser357Ter
ENST00000644683.1:c.*712C>A	ENSP00000494085.1:n.*712C>A
ENST00000644810.1:c.980C>A	ENSP00000495895.1:p.Ser327Ter
ENST00000644831.1:n.1435C>A
ENST00000644933.1:c.*125C>A	ENSP00000496133.1:n.*125C>A
ENST00000645285.1:c.*125C>A	ENSP00000495058.1:n.*125C>A
ENST00000645331.1:n.2464C>A
ENST00000645620.1:c.530C>A	ENSP00000493657.1:p.Ser177Ter
ENST00000646691.1:n.1034C>A
ENST00000646777.1:n.1592C>A
ENST00000647016.1:n.1739C>A
ENST00000647152.1:c.530C>A	ENSP00000495893.1:p.Ser177Ter
ENST00000647209.1:c.*1128C>A	ENSP00000495558.1:n.*1128C>A
ENST00000647346.1:n.2279C>A
ENST00000299427.10:c.1259C>A	ENSP00000299427.6:p.Ser420Ter
ENST00000524611.1:n.25C>A
ENST00000524924.1:n.214C>A
ENST00000532191.1:n.312C>A
ENST00000533371.5:c.530C>A	ENSP00000437066.1:p.Ser177Ter
ENST00000611494.4:c.1259C>A	ENSP00000484546.1:p.Ser420Ter
NM_000391.3:c.1259C>A	NP_000382.3:p.Ser420Ter
NM_000391.4:c.1259C>A MANE Select	NP_000382.3:p.Ser420Ter