Canonical Allele Identifier: CA180365252
Gene: TPD52 HGNC NCBI

Linked Data

dbSNP Id: rs977683068

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.80037625G>C , CM000670.2:g.80037625G>C GRCh38
NC_000008.10:g.80949860G>C , CM000670.1:g.80949860G>C GRCh37
NC_000008.9:g.81112415G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000518937.6:c.*491C>G MANE Select ENSP00000429915.1:n.*491C>G
ENST00000379096.9:c.*491C>G ENSP00000368390.4:n.*491C>G
ENST00000379097.7:c.*491C>G ENSP00000368391.3:n.*491C>G
ENST00000448733.3:c.*491C>G ENSP00000410222.2:n.*491C>G
ENST00000517427.5:c.*491C>G ENSP00000429351.1:n.*491C>G
ENST00000517462.6:c.*849C>G ENSP00000429708.1:n.*849C>G
ENST00000518937.5:c.*491C>G ENSP00000429915.1:n.*491C>G
ENST00000519303.6:c.*491C>G ENSP00000428951.1:n.*491C>G
ENST00000520527.5:c.*491C>G ENSP00000429309.1:n.*491C>G
ENST00000522938.5:c.555+4995C>G ENSP00000430858.2:n.555+4995C>G
NM_001025252.2:c.*491C>G NP_001020423.1:n.*491C>G
NM_001025253.2:c.*491C>G NP_001020424.1:n.*491C>G
NM_001287140.1:c.*491C>G NP_001274069.1:n.*491C>G
NM_001287142.1:c.*491C>G NP_001274071.1:n.*491C>G
NM_001287143.1:c.*491C>G NP_001274072.1:n.*491C>G
NM_001287144.1:c.*601C>G NP_001274073.1:n.*601C>G
NM_005079.3:c.*491C>G NP_005070.1:n.*491C>G
NR_105033.1:n.1683C>G
NR_105034.1:n.1146C>G
NR_105035.1:n.1332C>G
NR_105036.1:n.1276C>G
NR_105037.1:n.1277C>G
NM_001025252.3:c.*491C>G NP_001020423.1:n.*491C>G
NM_001025253.3:c.*491C>G MANE Select NP_001020424.1:n.*491C>G
NM_001287140.2:c.*491C>G NP_001274069.1:n.*491C>G
NM_001287143.2:c.*491C>G NP_001274072.1:n.*491C>G
NM_001287144.2:c.*601C>G NP_001274073.1:n.*601C>G
NM_005079.4:c.*491C>G NP_005070.1:n.*491C>G
NR_105033.2:n.1682C>G
NR_105034.2:n.1051C>G
NR_105035.2:n.1237C>G
NR_105036.2:n.1197C>G
NR_105037.2:n.1198C>G
NM_001287142.2:c.*491C>G NP_001274071.1:n.*491C>G
NM_001387778.1:c.435+4995C>G NP_001374707.1:n.435+4995C>G
NM_001387779.1:c.436-3782C>G NP_001374708.1:n.436-3782C>G
NM_001387780.1:c.460-3782C>G NP_001374709.1:n.460-3782C>G
NR_170693.1:n.1186C>G
NR_170694.1:n.1213C>G