Canonical Allele Identifier: CA180365145

Gene: TPD52

Linked Data

• dbSNP Id: rs932254637
• gnomAD v2: 8-80949795-G-A
• gnomAD v3: 8-80037560-G-A
• gnomAD v4: 8-80037560-G-A
• MyVariant Identifiers: chr8:g.80949795G>A (hg19) ; chr8:g.80037560G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.80037560G>A , CM000670.2:g.80037560G>A	GRCh38
NC_000008.10:g.80949795G>A , CM000670.1:g.80949795G>A	GRCh37
NC_000008.9:g.81112350G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000518937.6:c.*556C>T MANE Select	ENSP00000429915.1:n.*556C>T
ENST00000379096.9:c.*556C>T	ENSP00000368390.4:n.*556C>T
ENST00000379097.7:c.*556C>T	ENSP00000368391.3:n.*556C>T
ENST00000448733.3:c.*556C>T	ENSP00000410222.2:n.*556C>T
ENST00000517427.5:c.*556C>T	ENSP00000429351.1:n.*556C>T
ENST00000517462.6:c.*914C>T	ENSP00000429708.1:n.*914C>T
ENST00000518937.5:c.*556C>T	ENSP00000429915.1:n.*556C>T
ENST00000519303.6:c.*556C>T	ENSP00000428951.1:n.*556C>T
ENST00000520527.5:c.*556C>T	ENSP00000429309.1:n.*556C>T
ENST00000522938.5:c.555+5060C>T	ENSP00000430858.2:n.555+5060C>T
NM_001025252.2:c.*556C>T	NP_001020423.1:n.*556C>T
NM_001025253.2:c.*556C>T	NP_001020424.1:n.*556C>T
NM_001287140.1:c.*556C>T	NP_001274069.1:n.*556C>T
NM_001287142.1:c.*556C>T	NP_001274071.1:n.*556C>T
NM_001287143.1:c.*556C>T	NP_001274072.1:n.*556C>T
NM_001287144.1:c.*666C>T	NP_001274073.1:n.*666C>T
NM_005079.3:c.*556C>T	NP_005070.1:n.*556C>T
NR_105033.1:n.1748C>T
NR_105034.1:n.1211C>T
NR_105035.1:n.1397C>T
NR_105036.1:n.1341C>T
NR_105037.1:n.1342C>T
NM_001025252.3:c.*556C>T	NP_001020423.1:n.*556C>T
NM_001025253.3:c.*556C>T MANE Select	NP_001020424.1:n.*556C>T
NM_001287140.2:c.*556C>T	NP_001274069.1:n.*556C>T
NM_001287143.2:c.*556C>T	NP_001274072.1:n.*556C>T
NM_001287144.2:c.*666C>T	NP_001274073.1:n.*666C>T
NM_005079.4:c.*556C>T	NP_005070.1:n.*556C>T
NR_105033.2:n.1747C>T
NR_105034.2:n.1116C>T
NR_105035.2:n.1302C>T
NR_105036.2:n.1262C>T
NR_105037.2:n.1263C>T
NM_001287142.2:c.*556C>T	NP_001274071.1:n.*556C>T
NM_001387778.1:c.435+5060C>T	NP_001374707.1:n.435+5060C>T
NM_001387779.1:c.436-3717C>T	NP_001374708.1:n.436-3717C>T
NM_001387780.1:c.460-3717C>T	NP_001374709.1:n.460-3717C>T
NR_170693.1:n.1251C>T
NR_170694.1:n.1278C>T