Canonical Allele Identifier: CA472922957

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2764544
• ClinVar RCV Id: RCV003572548
• dbSNP Id: rs1240359626
• gnomAD v2: 11-6638886-C-T
• gnomAD v4: 11-6617655-C-T
• MyVariant Identifiers: chr11:g.6638886C>T (hg19) ; chr11:g.6617655C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617655C>T , CM000673.2:g.6617655C>T	GRCh38
NC_000011.9:g.6638886C>T , CM000673.1:g.6638886C>T	GRCh37
NC_000011.8:g.6595462C>T	NCBI36
NG_008653.1:g.6807G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.237G>A	ENSP00000507321.1:p.Gln79=
ENST00000299427.12:c.351G>A MANE Select	ENSP00000299427.6:p.Gln117=
ENST00000428886.7:n.439G>A
ENST00000436873.7:c.155G>A
ENST00000524788.2:n.1363G>A
ENST00000524903.2:n.1479G>A
ENST00000528571.6:c.*91G>A	ENSP00000434647.1:n.*91G>A
ENST00000530040.2:n.380G>A
ENST00000533371.6:c.-379G>A	ENSP00000437066.1:n.-379G>A
ENST00000534644.6:n.352G>A
ENST00000642892.1:c.-326G>A	ENSP00000494165.1:n.-326G>A
ENST00000643439.1:c.*91G>A	ENSP00000495849.1:n.*91G>A
ENST00000643479.1:n.380G>A
ENST00000643516.1:c.238G>A
ENST00000644151.1:n.1643G>A
ENST00000644218.1:c.351G>A	ENSP00000493574.1:p.Gln117=
ENST00000644683.1:c.351G>A	ENSP00000494085.1:p.Gln117=
ENST00000644810.1:c.230-502G>A	ENSP00000495895.1:n.230-502G>A
ENST00000644831.1:n.380G>A
ENST00000644933.1:c.-379G>A	ENSP00000496133.1:n.-379G>A
ENST00000645020.1:n.1379G>A
ENST00000645285.1:c.-379G>A	ENSP00000495058.1:n.-379G>A
ENST00000645331.1:n.373G>A
ENST00000645620.1:c.-321G>A	ENSP00000493657.1:n.-321G>A
ENST00000646777.1:n.380G>A
ENST00000647016.1:n.684G>A
ENST00000647152.1:c.-379G>A	ENSP00000495893.1:n.-379G>A
ENST00000647209.1:c.*220G>A	ENSP00000495558.1:n.*220G>A
ENST00000647346.1:n.1371G>A
ENST00000299427.10:c.351G>A	ENSP00000299427.6:p.Gln117=
ENST00000428886.6:n.373G>A
ENST00000436873.6:c.351G>A	ENSP00000398136.2:p.Gln117=
ENST00000528571.5:c.*91G>A	ENSP00000434647.1:n.*91G>A
ENST00000530040.1:n.463G>A
ENST00000533371.5:c.-379G>A	ENSP00000437066.1:n.-379G>A
ENST00000534644.5:n.336G>A
ENST00000611494.4:c.351G>A	ENSP00000484546.1:p.Gln117=
NM_000391.3:c.351G>A	NP_000382.3:p.Gln117=
NM_000391.4:c.351G>A MANE Select	NP_000382.3:p.Gln117=