Canonical Allele Identifier: CA180365326

Gene: TPD52

Linked Data

• dbSNP Id: rs1009999670
• gnomAD v2: 8-80949972-G-C
• gnomAD v3: 8-80037737-G-C
• gnomAD v4: 8-80037737-G-C
• MyVariant Identifiers: chr8:g.80949972G>C (hg19) ; chr8:g.80037737G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.80037737G>C , CM000670.2:g.80037737G>C	GRCh38
NC_000008.10:g.80949972G>C , CM000670.1:g.80949972G>C	GRCh37
NC_000008.9:g.81112527G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518937.6:c.*379C>G MANE Select	ENSP00000429915.1:n.*379C>G
ENST00000379096.9:c.*379C>G	ENSP00000368390.4:n.*379C>G
ENST00000379097.7:c.*379C>G	ENSP00000368391.3:n.*379C>G
ENST00000448733.3:c.*379C>G	ENSP00000410222.2:n.*379C>G
ENST00000517427.5:c.*379C>G	ENSP00000429351.1:n.*379C>G
ENST00000517462.6:c.*737C>G	ENSP00000429708.1:n.*737C>G
ENST00000518937.5:c.*379C>G	ENSP00000429915.1:n.*379C>G
ENST00000519303.6:c.*379C>G	ENSP00000428951.1:n.*379C>G
ENST00000520527.5:c.*379C>G	ENSP00000429309.1:n.*379C>G
ENST00000522938.5:c.555+4883C>G	ENSP00000430858.2:n.555+4883C>G
ENST00000523395.5:n.713C>G
NM_001025252.2:c.*379C>G	NP_001020423.1:n.*379C>G
NM_001025253.2:c.*379C>G	NP_001020424.1:n.*379C>G
NM_001287140.1:c.*379C>G	NP_001274069.1:n.*379C>G
NM_001287142.1:c.*379C>G	NP_001274071.1:n.*379C>G
NM_001287143.1:c.*379C>G	NP_001274072.1:n.*379C>G
NM_001287144.1:c.*489C>G	NP_001274073.1:n.*489C>G
NM_005079.3:c.*379C>G	NP_005070.1:n.*379C>G
NR_105033.1:n.1571C>G
NR_105034.1:n.1034C>G
NR_105035.1:n.1220C>G
NR_105036.1:n.1164C>G
NR_105037.1:n.1165C>G
NM_001025252.3:c.*379C>G	NP_001020423.1:n.*379C>G
NM_001025253.3:c.*379C>G MANE Select	NP_001020424.1:n.*379C>G
NM_001287140.2:c.*379C>G	NP_001274069.1:n.*379C>G
NM_001287143.2:c.*379C>G	NP_001274072.1:n.*379C>G
NM_001287144.2:c.*489C>G	NP_001274073.1:n.*489C>G
NM_005079.4:c.*379C>G	NP_005070.1:n.*379C>G
NR_105033.2:n.1570C>G
NR_105034.2:n.939C>G
NR_105035.2:n.1125C>G
NR_105036.2:n.1085C>G
NR_105037.2:n.1086C>G
NM_001287142.2:c.*379C>G	NP_001274071.1:n.*379C>G
NM_001387778.1:c.435+4883C>G	NP_001374707.1:n.435+4883C>G
NM_001387779.1:c.436-3894C>G	NP_001374708.1:n.436-3894C>G
NM_001387780.1:c.460-3894C>G	NP_001374709.1:n.460-3894C>G
NR_170693.1:n.1074C>G
NR_170694.1:n.1101C>G