Canonical Allele Identifier: CA5858705

Gene: TPP1

Linked Data

• ClinVar Variation Id: 408908
• ClinVar RCV Id: RCV001108044 ; RCV001298323 ; RCV002313167
• dbSNP Id: rs149319579
• ExAC: 11:6636747 G / A
• gnomAD v2: 11-6636747-G-A
• gnomAD v3: 11-6615516-G-A
• gnomAD v4: 11-6615516-G-A
• MyVariant Identifiers: chr11:g.6636747G>A (hg19) ; chr11:g.6615516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615516G>A , CM000673.2:g.6615516G>A	GRCh38
NC_000011.9:g.6636747G>A , CM000673.1:g.6636747G>A	GRCh37
NC_000011.8:g.6593323G>A	NCBI36
NG_008653.1:g.8946C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1078C>T	ENSP00000507321.1:p.Leu360Phe
ENST00000299427.12:c.1192C>T MANE Select	ENSP00000299427.6:p.Leu398Phe
ENST00000436873.7:c.429C>T
ENST00000524924.2:n.312C>T
ENST00000533371.6:c.463C>T	ENSP00000437066.1:p.Leu155Phe
ENST00000642892.1:c.463C>T	ENSP00000494165.1:p.Leu155Phe
ENST00000643342.1:c.265C>T
ENST00000643439.1:c.*932C>T	ENSP00000495849.1:n.*932C>T
ENST00000643479.1:n.1378C>T
ENST00000643516.1:c.701C>T
ENST00000644218.1:c.1003C>T	ENSP00000493574.1:p.Leu335Phe
ENST00000644683.1:c.*645C>T	ENSP00000494085.1:n.*645C>T
ENST00000644810.1:c.913C>T	ENSP00000495895.1:p.Leu305Phe
ENST00000644831.1:n.1368C>T
ENST00000644933.1:c.*58C>T	ENSP00000496133.1:n.*58C>T
ENST00000645285.1:c.*58C>T	ENSP00000495058.1:n.*58C>T
ENST00000645331.1:n.2397C>T
ENST00000645620.1:c.463C>T	ENSP00000493657.1:p.Leu155Phe
ENST00000646691.1:n.967C>T
ENST00000646777.1:n.1525C>T
ENST00000647016.1:n.1672C>T
ENST00000647152.1:c.463C>T	ENSP00000495893.1:p.Leu155Phe
ENST00000647209.1:c.*1061C>T	ENSP00000495558.1:n.*1061C>T
ENST00000647346.1:n.2212C>T
ENST00000299427.10:c.1192C>T	ENSP00000299427.6:p.Leu398Phe
ENST00000524924.1:n.147C>T
ENST00000532191.1:n.245C>T
ENST00000533371.5:c.463C>T	ENSP00000437066.1:p.Leu155Phe
ENST00000611494.4:c.1192C>T	ENSP00000484546.1:p.Leu398Phe
NM_000391.3:c.1192C>T	NP_000382.3:p.Leu398Phe
NM_000391.4:c.1192C>T MANE Select	NP_000382.3:p.Leu398Phe