Canonical Allele Identifier: CA319216

Gene: TPP1

Linked Data

• ClinVar Variation Id: 207595
• ClinVar RCV Id: RCV000189794 ; RCV001274536 ; RCV002399705
• dbSNP Id: rs748345018
• ExAC: 11:6636105 G / A
• gnomAD v2: 11-6636105-G-A
• gnomAD v3: 11-6614874-G-A
• gnomAD v4: 11-6614874-G-A
• MyVariant Identifiers: chr11:g.6636105G>A (hg19) ; chr11:g.6614874G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614874G>A , CM000673.2:g.6614874G>A	GRCh38
NC_000011.9:g.6636105G>A , CM000673.1:g.6636105G>A	GRCh37
NC_000011.8:g.6592681G>A	NCBI36
NG_008653.1:g.9588C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1429C>T	ENSP00000507321.1:p.Leu477Phe
ENST00000299427.12:c.1543C>T MANE Select	ENSP00000299427.6:p.Leu515Phe
ENST00000524611.2:n.403C>T
ENST00000524924.2:n.663C>T
ENST00000533371.6:c.814C>T	ENSP00000437066.1:p.Leu272Phe
ENST00000642892.1:c.814C>T	ENSP00000494165.1:p.Leu272Phe
ENST00000643342.1:c.616C>T
ENST00000643439.1:c.*1283C>T	ENSP00000495849.1:n.*1283C>T
ENST00000643479.1:n.1729C>T
ENST00000643516.1:c.1052C>T
ENST00000644218.1:c.1354C>T	ENSP00000493574.1:p.Leu452Phe
ENST00000644683.1:c.*996C>T	ENSP00000494085.1:n.*996C>T
ENST00000644810.1:c.1264C>T	ENSP00000495895.1:p.Leu422Phe
ENST00000644831.1:n.1719C>T
ENST00000644933.1:c.*409C>T	ENSP00000496133.1:n.*409C>T
ENST00000645285.1:c.*409C>T	ENSP00000495058.1:n.*409C>T
ENST00000645331.1:n.2748C>T
ENST00000645620.1:c.814C>T	ENSP00000493657.1:p.Leu272Phe
ENST00000646691.1:n.1430C>T
ENST00000646777.1:n.1876C>T
ENST00000647016.1:n.2023C>T
ENST00000647152.1:c.814C>T	ENSP00000495893.1:p.Leu272Phe
ENST00000647209.1:c.*1412C>T	ENSP00000495558.1:n.*1412C>T
ENST00000647346.1:n.2563C>T
ENST00000299427.10:c.1543C>T	ENSP00000299427.6:p.Leu515Phe
ENST00000524611.1:n.421C>T
ENST00000533371.5:c.814C>T	ENSP00000437066.1:p.Leu272Phe
ENST00000611494.4:c.1543C>T	ENSP00000484546.1:p.Leu515Phe
NM_000391.3:c.1543C>T	NP_000382.3:p.Leu515Phe
NM_000391.4:c.1543C>T MANE Select	NP_000382.3:p.Leu515Phe