Canonical Allele Identifier: CA217324948

Gene: TPP1

Linked Data

• dbSNP Id: rs974032100
• gnomAD v2: 11-6639242-G-A
• gnomAD v3: 11-6618011-G-A
• gnomAD v4: 11-6618011-G-A
• MyVariant Identifiers: chr11:g.6639242G>A (hg19) ; chr11:g.6618011G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6618011G>A , CM000673.2:g.6618011G>A	GRCh38
NC_000011.9:g.6639242G>A , CM000673.1:g.6639242G>A	GRCh37
NC_000011.8:g.6595818G>A	NCBI36
NG_008653.1:g.6451C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.116-235C>T	ENSP00000507321.1:n.116-235C>T
ENST00000299427.12:c.230-235C>T MANE Select	ENSP00000299427.6:n.230-235C>T
ENST00000428886.7:n.318-235C>T
ENST00000436873.7:c.34-235C>T
ENST00000524788.2:n.1007C>T
ENST00000524903.2:n.1123C>T
ENST00000528571.6:c.90-235C>T	ENSP00000434647.1:n.90-235C>T
ENST00000530040.2:n.259-235C>T
ENST00000533371.6:c.-500-235C>T	ENSP00000437066.1:n.-500-235C>T
ENST00000534644.6:n.231-235C>T
ENST00000642892.1:c.-447-235C>T	ENSP00000494165.1:n.-447-235C>T
ENST00000643439.1:c.90-235C>T	ENSP00000495849.1:n.90-235C>T
ENST00000643479.1:n.259-235C>T
ENST00000643516.1:c.117-235C>T
ENST00000644151.1:n.1287C>T
ENST00000644218.1:c.230-235C>T	ENSP00000493574.1:n.230-235C>T
ENST00000644683.1:c.230-235C>T	ENSP00000494085.1:n.230-235C>T
ENST00000644810.1:c.229+765C>T	ENSP00000495895.1:n.229+765C>T
ENST00000644831.1:n.259-235C>T
ENST00000644933.1:c.-500-235C>T	ENSP00000496133.1:n.-500-235C>T
ENST00000645020.1:n.1023C>T
ENST00000645285.1:c.-500-235C>T	ENSP00000495058.1:n.-500-235C>T
ENST00000645331.1:n.252-235C>T
ENST00000645620.1:c.-442-235C>T	ENSP00000493657.1:n.-442-235C>T
ENST00000646777.1:n.259-235C>T
ENST00000647016.1:n.328C>T
ENST00000647152.1:c.-500-235C>T	ENSP00000495893.1:n.-500-235C>T
ENST00000647209.1:c.*99-235C>T	ENSP00000495558.1:n.*99-235C>T
ENST00000647346.1:n.1015C>T
ENST00000299427.10:c.230-235C>T	ENSP00000299427.6:n.230-235C>T
ENST00000428886.6:n.252-235C>T
ENST00000436873.6:c.230-235C>T	ENSP00000398136.2:n.230-235C>T
ENST00000528571.5:c.90-235C>T	ENSP00000434647.1:n.90-235C>T
ENST00000528917.1:n.531-235C>T
ENST00000530040.1:n.342-235C>T
ENST00000533371.5:c.-500-235C>T	ENSP00000437066.1:n.-500-235C>T
ENST00000534644.5:n.215-235C>T
ENST00000611494.4:c.230-235C>T	ENSP00000484546.1:n.230-235C>T
NM_000391.3:c.230-235C>T	NP_000382.3:n.230-235C>T
NM_000391.4:c.230-235C>T MANE Select	NP_000382.3:n.230-235C>T