Canonical Allele Identifier: CA379476230

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617657-G-T
• MyVariant Identifiers: chr11:g.6638888G>T (hg19) ; chr11:g.6617657G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617657G>T , CM000673.2:g.6617657G>T	GRCh38
NC_000011.9:g.6638888G>T , CM000673.1:g.6638888G>T	GRCh37
NC_000011.8:g.6595464G>T	NCBI36
NG_008653.1:g.6805C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.235C>A	ENSP00000507321.1:p.Gln79Lys
ENST00000299427.12:c.349C>A MANE Select	ENSP00000299427.6:p.Gln117Lys
ENST00000428886.7:n.437C>A
ENST00000436873.7:c.153C>A
ENST00000524788.2:n.1361C>A
ENST00000524903.2:n.1477C>A
ENST00000528571.6:c.*89C>A	ENSP00000434647.1:n.*89C>A
ENST00000530040.2:n.378C>A
ENST00000533371.6:c.-381C>A	ENSP00000437066.1:n.-381C>A
ENST00000534644.6:n.350C>A
ENST00000642892.1:c.-328C>A	ENSP00000494165.1:n.-328C>A
ENST00000643439.1:c.*89C>A	ENSP00000495849.1:n.*89C>A
ENST00000643479.1:n.378C>A
ENST00000643516.1:c.236C>A
ENST00000644151.1:n.1641C>A
ENST00000644218.1:c.349C>A	ENSP00000493574.1:p.Gln117Lys
ENST00000644683.1:c.349C>A	ENSP00000494085.1:p.Gln117Lys
ENST00000644810.1:c.230-504C>A	ENSP00000495895.1:n.230-504C>A
ENST00000644831.1:n.378C>A
ENST00000644933.1:c.-381C>A	ENSP00000496133.1:n.-381C>A
ENST00000645020.1:n.1377C>A
ENST00000645285.1:c.-381C>A	ENSP00000495058.1:n.-381C>A
ENST00000645331.1:n.371C>A
ENST00000645620.1:c.-323C>A	ENSP00000493657.1:n.-323C>A
ENST00000646777.1:n.378C>A
ENST00000647016.1:n.682C>A
ENST00000647152.1:c.-381C>A	ENSP00000495893.1:n.-381C>A
ENST00000647209.1:c.*218C>A	ENSP00000495558.1:n.*218C>A
ENST00000647346.1:n.1369C>A
ENST00000299427.10:c.349C>A	ENSP00000299427.6:p.Gln117Lys
ENST00000428886.6:n.371C>A
ENST00000436873.6:c.349C>A	ENSP00000398136.2:p.Gln117Lys
ENST00000528571.5:c.*89C>A	ENSP00000434647.1:n.*89C>A
ENST00000530040.1:n.461C>A
ENST00000533371.5:c.-381C>A	ENSP00000437066.1:n.-381C>A
ENST00000534644.5:n.334C>A
ENST00000611494.4:c.349C>A	ENSP00000484546.1:p.Gln117Lys
NM_000391.3:c.349C>A	NP_000382.3:p.Gln117Lys
NM_000391.4:c.349C>A MANE Select	NP_000382.3:p.Gln117Lys