Canonical Allele Identifier: CA319214

Gene: TPP1

Linked Data

• ClinVar Variation Id: 207594
• ClinVar RCV Id: RCV000189793 ; RCV000764996 ; RCV001274537 ; RCV002390502
• dbSNP Id: rs149529997
• ExAC: 11:6636122 T / C
• gnomAD v2: 11-6636122-T-C
• gnomAD v3: 11-6614891-T-C
• gnomAD v4: 11-6614891-T-C
• MyVariant Identifiers: chr11:g.6636122T>C (hg19) ; chr11:g.6614891T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614891T>C , CM000673.2:g.6614891T>C	GRCh38
NC_000011.9:g.6636122T>C , CM000673.1:g.6636122T>C	GRCh37
NC_000011.8:g.6592698T>C	NCBI36
NG_008653.1:g.9571A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1412A>G	ENSP00000507321.1:p.Gln471Arg
ENST00000299427.12:c.1526A>G MANE Select	ENSP00000299427.6:p.Gln509Arg
ENST00000524611.2:n.386A>G
ENST00000524924.2:n.646A>G
ENST00000533371.6:c.797A>G	ENSP00000437066.1:p.Gln266Arg
ENST00000642892.1:c.797A>G	ENSP00000494165.1:p.Gln266Arg
ENST00000643342.1:c.599A>G
ENST00000643439.1:c.*1266A>G	ENSP00000495849.1:n.*1266A>G
ENST00000643479.1:n.1712A>G
ENST00000643516.1:c.1035A>G
ENST00000644218.1:c.1337A>G	ENSP00000493574.1:p.Gln446Arg
ENST00000644683.1:c.*979A>G	ENSP00000494085.1:n.*979A>G
ENST00000644810.1:c.1247A>G	ENSP00000495895.1:p.Gln416Arg
ENST00000644831.1:n.1702A>G
ENST00000644933.1:c.*392A>G	ENSP00000496133.1:n.*392A>G
ENST00000645285.1:c.*392A>G	ENSP00000495058.1:n.*392A>G
ENST00000645331.1:n.2731A>G
ENST00000645620.1:c.797A>G	ENSP00000493657.1:p.Gln266Arg
ENST00000646691.1:n.1413A>G
ENST00000646777.1:n.1859A>G
ENST00000647016.1:n.2006A>G
ENST00000647152.1:c.797A>G	ENSP00000495893.1:p.Gln266Arg
ENST00000647209.1:c.*1395A>G	ENSP00000495558.1:n.*1395A>G
ENST00000647346.1:n.2546A>G
ENST00000299427.10:c.1526A>G	ENSP00000299427.6:p.Gln509Arg
ENST00000524611.1:n.404A>G
ENST00000533371.5:c.797A>G	ENSP00000437066.1:p.Gln266Arg
ENST00000611494.4:c.1526A>G	ENSP00000484546.1:p.Gln509Arg
NM_000391.3:c.1526A>G	NP_000382.3:p.Gln509Arg
NM_000391.4:c.1526A>G MANE Select	NP_000382.3:p.Gln509Arg