Canonical Allele Identifier: CA1115746031

Gene: TPD52

Linked Data

• dbSNP Id: rs1809996510
• gnomAD v3: 8-80037573-A-G
• gnomAD v4: 8-80037573-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.80037573A>G , CM000670.2:g.80037573A>G	GRCh38
NC_000008.10:g.80949808A>G , CM000670.1:g.80949808A>G	GRCh37
NC_000008.9:g.81112363A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518937.6:c.*543T>C MANE Select	ENSP00000429915.1:n.*543T>C
ENST00000379096.9:c.*543T>C	ENSP00000368390.4:n.*543T>C
ENST00000379097.7:c.*543T>C	ENSP00000368391.3:n.*543T>C
ENST00000448733.3:c.*543T>C	ENSP00000410222.2:n.*543T>C
ENST00000517427.5:c.*543T>C	ENSP00000429351.1:n.*543T>C
ENST00000517462.6:c.*901T>C	ENSP00000429708.1:n.*901T>C
ENST00000518937.5:c.*543T>C	ENSP00000429915.1:n.*543T>C
ENST00000519303.6:c.*543T>C	ENSP00000428951.1:n.*543T>C
ENST00000520527.5:c.*543T>C	ENSP00000429309.1:n.*543T>C
ENST00000522938.5:c.555+5047T>C	ENSP00000430858.2:n.555+5047T>C
NM_001025252.2:c.*543T>C	NP_001020423.1:n.*543T>C
NM_001025253.2:c.*543T>C	NP_001020424.1:n.*543T>C
NM_001287140.1:c.*543T>C	NP_001274069.1:n.*543T>C
NM_001287142.1:c.*543T>C	NP_001274071.1:n.*543T>C
NM_001287143.1:c.*543T>C	NP_001274072.1:n.*543T>C
NM_001287144.1:c.*653T>C	NP_001274073.1:n.*653T>C
NM_005079.3:c.*543T>C	NP_005070.1:n.*543T>C
NR_105033.1:n.1735T>C
NR_105034.1:n.1198T>C
NR_105035.1:n.1384T>C
NR_105036.1:n.1328T>C
NR_105037.1:n.1329T>C
NM_001025252.3:c.*543T>C	NP_001020423.1:n.*543T>C
NM_001025253.3:c.*543T>C MANE Select	NP_001020424.1:n.*543T>C
NM_001287140.2:c.*543T>C	NP_001274069.1:n.*543T>C
NM_001287143.2:c.*543T>C	NP_001274072.1:n.*543T>C
NM_001287144.2:c.*653T>C	NP_001274073.1:n.*653T>C
NM_005079.4:c.*543T>C	NP_005070.1:n.*543T>C
NR_105033.2:n.1734T>C
NR_105034.2:n.1103T>C
NR_105035.2:n.1289T>C
NR_105036.2:n.1249T>C
NR_105037.2:n.1250T>C
NM_001287142.2:c.*543T>C	NP_001274071.1:n.*543T>C
NM_001387778.1:c.435+5047T>C	NP_001374707.1:n.435+5047T>C
NM_001387779.1:c.436-3730T>C	NP_001374708.1:n.436-3730T>C
NM_001387780.1:c.460-3730T>C	NP_001374709.1:n.460-3730T>C
NR_170693.1:n.1238T>C
NR_170694.1:n.1265T>C