Canonical Allele Identifier: CA2687711047
Gene: TPD52 HGNC NCBI

Linked Data

gnomAD v4: 8-80037629-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.80037629T>G , CM000670.2:g.80037629T>G GRCh38
NC_000008.10:g.80949864T>G , CM000670.1:g.80949864T>G GRCh37
NC_000008.9:g.81112419T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000518937.6:c.*487A>C MANE Select ENSP00000429915.1:n.*487A>C
ENST00000379096.9:c.*487A>C ENSP00000368390.4:n.*487A>C
ENST00000379097.7:c.*487A>C ENSP00000368391.3:n.*487A>C
ENST00000448733.3:c.*487A>C ENSP00000410222.2:n.*487A>C
ENST00000517427.5:c.*487A>C ENSP00000429351.1:n.*487A>C
ENST00000517462.6:c.*845A>C ENSP00000429708.1:n.*845A>C
ENST00000518937.5:c.*487A>C ENSP00000429915.1:n.*487A>C
ENST00000519303.6:c.*487A>C ENSP00000428951.1:n.*487A>C
ENST00000520527.5:c.*487A>C ENSP00000429309.1:n.*487A>C
ENST00000522938.5:c.555+4991A>C ENSP00000430858.2:n.555+4991A>C
NM_001025252.2:c.*487A>C NP_001020423.1:n.*487A>C
NM_001025253.2:c.*487A>C NP_001020424.1:n.*487A>C
NM_001287140.1:c.*487A>C NP_001274069.1:n.*487A>C
NM_001287142.1:c.*487A>C NP_001274071.1:n.*487A>C
NM_001287143.1:c.*487A>C NP_001274072.1:n.*487A>C
NM_001287144.1:c.*597A>C NP_001274073.1:n.*597A>C
NM_005079.3:c.*487A>C NP_005070.1:n.*487A>C
NR_105033.1:n.1679A>C
NR_105034.1:n.1142A>C
NR_105035.1:n.1328A>C
NR_105036.1:n.1272A>C
NR_105037.1:n.1273A>C
NM_001025252.3:c.*487A>C NP_001020423.1:n.*487A>C
NM_001025253.3:c.*487A>C MANE Select NP_001020424.1:n.*487A>C
NM_001287140.2:c.*487A>C NP_001274069.1:n.*487A>C
NM_001287143.2:c.*487A>C NP_001274072.1:n.*487A>C
NM_001287144.2:c.*597A>C NP_001274073.1:n.*597A>C
NM_005079.4:c.*487A>C NP_005070.1:n.*487A>C
NR_105033.2:n.1678A>C
NR_105034.2:n.1047A>C
NR_105035.2:n.1233A>C
NR_105036.2:n.1193A>C
NR_105037.2:n.1194A>C
NM_001287142.2:c.*487A>C NP_001274071.1:n.*487A>C
NM_001387778.1:c.435+4991A>C NP_001374707.1:n.435+4991A>C
NM_001387779.1:c.436-3786A>C NP_001374708.1:n.436-3786A>C
NM_001387780.1:c.460-3786A>C NP_001374709.1:n.460-3786A>C
NR_170693.1:n.1182A>C
NR_170694.1:n.1209A>C