Canonical Allele Identifier: CA379475725

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638558T>G (hg19) ; chr11:g.6617327T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617327T>G , CM000673.2:g.6617327T>G	GRCh38
NC_000011.9:g.6638558T>G , CM000673.1:g.6638558T>G	GRCh37
NC_000011.8:g.6595134T>G	NCBI36
NG_008653.1:g.7135A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.368A>C	ENSP00000507321.1:p.Gln123Pro
ENST00000299427.12:c.482A>C MANE Select	ENSP00000299427.6:p.Gln161Pro
ENST00000428886.7:n.570A>C
ENST00000436873.7:c.286A>C
ENST00000524788.2:n.1494A>C
ENST00000524903.2:n.1610A>C
ENST00000528571.6:c.*222A>C	ENSP00000434647.1:n.*222A>C
ENST00000528807.2:n.138A>C
ENST00000530040.2:n.479+32A>C
ENST00000533371.6:c.-248A>C	ENSP00000437066.1:n.-248A>C
ENST00000534644.6:n.456+27A>C
ENST00000642892.1:c.-222+27A>C	ENSP00000494165.1:n.-222+27A>C
ENST00000643439.1:c.*222A>C	ENSP00000495849.1:n.*222A>C
ENST00000643479.1:n.511A>C
ENST00000643516.1:c.369A>C
ENST00000644151.1:n.1774A>C
ENST00000644218.1:c.482A>C	ENSP00000493574.1:p.Gln161Pro
ENST00000644683.1:c.450+32A>C	ENSP00000494085.1:n.450+32A>C
ENST00000644810.1:c.230-174A>C	ENSP00000495895.1:n.230-174A>C
ENST00000644831.1:n.511A>C
ENST00000644933.1:c.-248A>C	ENSP00000496133.1:n.-248A>C
ENST00000645020.1:n.1510A>C
ENST00000645285.1:c.-248A>C	ENSP00000495058.1:n.-248A>C
ENST00000645331.1:n.701A>C
ENST00000645620.1:c.-222+32A>C	ENSP00000493657.1:n.-222+32A>C
ENST00000646777.1:n.511A>C
ENST00000647016.1:n.815A>C
ENST00000647152.1:c.-248A>C	ENSP00000495893.1:n.-248A>C
ENST00000647209.1:c.*351A>C	ENSP00000495558.1:n.*351A>C
ENST00000647346.1:n.1502A>C
ENST00000299427.10:c.482A>C	ENSP00000299427.6:p.Gln161Pro
ENST00000428886.6:n.504A>C
ENST00000436873.6:c.450+32A>C	ENSP00000398136.2:n.450+32A>C
ENST00000524788.1:n.35A>C
ENST00000528571.5:c.*222A>C	ENSP00000434647.1:n.*222A>C
ENST00000533371.5:c.-248A>C	ENSP00000437066.1:n.-248A>C
ENST00000534644.5:n.467A>C
ENST00000611494.4:c.482A>C	ENSP00000484546.1:p.Gln161Pro
NM_000391.3:c.482A>C	NP_000382.3:p.Gln161Pro
NM_000391.4:c.482A>C MANE Select	NP_000382.3:p.Gln161Pro