Canonical Allele Identifier: CA679351915

Gene: TPP1

Linked Data

• dbSNP Id: rs1194611734
• gnomAD v3: 11-6618023-G-A
• gnomAD v4: 11-6618023-G-A
• MyVariant Identifiers: chr11:g.6639254G>A (hg19) ; chr11:g.6618023G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6618023G>A , CM000673.2:g.6618023G>A	GRCh38
NC_000011.9:g.6639254G>A , CM000673.1:g.6639254G>A	GRCh37
NC_000011.8:g.6595830G>A	NCBI36
NG_008653.1:g.6439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.116-247C>T	ENSP00000507321.1:n.116-247C>T
ENST00000299427.12:c.230-247C>T MANE Select	ENSP00000299427.6:n.230-247C>T
ENST00000428886.7:n.318-247C>T
ENST00000436873.7:c.34-247C>T
ENST00000524788.2:n.995C>T
ENST00000524903.2:n.1111C>T
ENST00000528571.6:c.90-247C>T	ENSP00000434647.1:n.90-247C>T
ENST00000530040.2:n.259-247C>T
ENST00000533371.6:c.-500-247C>T	ENSP00000437066.1:n.-500-247C>T
ENST00000534644.6:n.231-247C>T
ENST00000642892.1:c.-447-247C>T	ENSP00000494165.1:n.-447-247C>T
ENST00000643439.1:c.90-247C>T	ENSP00000495849.1:n.90-247C>T
ENST00000643479.1:n.259-247C>T
ENST00000643516.1:c.117-247C>T
ENST00000644151.1:n.1275C>T
ENST00000644218.1:c.230-247C>T	ENSP00000493574.1:n.230-247C>T
ENST00000644683.1:c.230-247C>T	ENSP00000494085.1:n.230-247C>T
ENST00000644810.1:c.229+753C>T	ENSP00000495895.1:n.229+753C>T
ENST00000644831.1:n.259-247C>T
ENST00000644933.1:c.-500-247C>T	ENSP00000496133.1:n.-500-247C>T
ENST00000645020.1:n.1011C>T
ENST00000645285.1:c.-500-247C>T	ENSP00000495058.1:n.-500-247C>T
ENST00000645331.1:n.252-247C>T
ENST00000645620.1:c.-442-247C>T	ENSP00000493657.1:n.-442-247C>T
ENST00000646777.1:n.259-247C>T
ENST00000647016.1:n.316C>T
ENST00000647152.1:c.-500-247C>T	ENSP00000495893.1:n.-500-247C>T
ENST00000647209.1:c.*99-247C>T	ENSP00000495558.1:n.*99-247C>T
ENST00000647346.1:n.1003C>T
ENST00000299427.10:c.230-247C>T	ENSP00000299427.6:n.230-247C>T
ENST00000428886.6:n.252-247C>T
ENST00000436873.6:c.230-247C>T	ENSP00000398136.2:n.230-247C>T
ENST00000528571.5:c.90-247C>T	ENSP00000434647.1:n.90-247C>T
ENST00000528917.1:n.531-247C>T
ENST00000530040.1:n.342-247C>T
ENST00000533371.5:c.-500-247C>T	ENSP00000437066.1:n.-500-247C>T
ENST00000534644.5:n.215-247C>T
ENST00000611494.4:c.230-247C>T	ENSP00000484546.1:n.230-247C>T
NM_000391.3:c.230-247C>T	NP_000382.3:n.230-247C>T
NM_000391.4:c.230-247C>T MANE Select	NP_000382.3:n.230-247C>T