Canonical Allele Identifier: CA1115770022

Gene: TPD52

Linked Data

• dbSNP Id: rs1291630368
• gnomAD v3: 8-80119586-T-C
• gnomAD v4: 8-80119586-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.80119586T>C , CM000670.2:g.80119586T>C	GRCh38
NC_000008.10:g.81031821T>C , CM000670.1:g.81031821T>C	GRCh37
NC_000008.9:g.81194376T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518937.6:c.19+51839A>G MANE Select	ENSP00000429915.1:n.19+51839A>G
ENST00000379096.9:c.19+51839A>G	ENSP00000368390.4:n.19+51839A>G
ENST00000518517.5:c.89+229A>G	ENSP00000430421.1:n.89+229A>G
ENST00000518937.5:c.19+51839A>G	ENSP00000429915.1:n.19+51839A>G
ENST00000519250.5:n.236-54993A>G
ENST00000519303.6:c.-423+51435A>G	ENSP00000428951.1:n.-423+51435A>G
ENST00000520795.5:c.177+51621A>G
ENST00000521241.6:c.19+51839A>G	ENSP00000430323.1:n.19+51839A>G
ENST00000521354.5:c.19+51839A>G	ENSP00000430646.1:n.19+51839A>G
ENST00000521561.1:n.451+38851A>G
ENST00000523753.5:c.89+229A>G	ENSP00000430140.1:n.89+229A>G
NM_001025253.2:c.19+51839A>G	NP_001020424.1:n.19+51839A>G
NM_001287144.1:c.19+51839A>G	NP_001274073.1:n.19+51839A>G
NM_005079.3:c.19+51839A>G	NP_005070.1:n.19+51839A>G
NR_105034.1:n.235+51839A>G
NR_105035.1:n.305+229A>G
NR_105036.1:n.180+51435A>G
NR_105037.1:n.250+229A>G
NM_001025253.3:c.19+51839A>G MANE Select	NP_001020424.1:n.19+51839A>G
NM_001287144.2:c.19+51839A>G	NP_001274073.1:n.19+51839A>G
NM_005079.4:c.19+51839A>G	NP_005070.1:n.19+51839A>G
NR_105034.2:n.140+51839A>G
NR_105035.2:n.210+229A>G
NR_105036.2:n.101+51435A>G
NR_105037.2:n.171+229A>G
NM_001387778.1:c.19+51839A>G	NP_001374707.1:n.19+51839A>G
NM_001387779.1:c.19+51839A>G	NP_001374708.1:n.19+51839A>G
NM_001387780.1:c.-65-9651A>G	NP_001374709.1:n.-65-9651A>G
NR_170693.1:n.140+51839A>G
NR_170694.1:n.140+51839A>G