Canonical Allele Identifier: CA5585192

Gene: LDB3

Linked Data

• ClinVar Variation Id: 509273
• ClinVar RCV Id: RCV000607870 ; RCV000689385 ; RCV001722658 ; RCV002395564
• dbSNP Id: rs113817827
• ExAC: 10:88476458 G / A
• gnomAD v2: 10-88476458-G-A
• gnomAD v3: 10-86716701-G-A
• gnomAD v4: 10-86716701-G-A
• MyVariant Identifiers: chr10:g.88476458G>A (hg19) ; chr10:g.86716701G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86716701G>A , CM000672.2:g.86716701G>A	GRCh38
NC_000010.10:g.88476458G>A , CM000672.1:g.88476458G>A	GRCh37
NC_000010.9:g.88466438G>A	NCBI36
NG_008876.1:g.53138G>A , LRG_385:g.53138G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687154.1:n.515-2026G>A
ENST00000688001.1:c.1417G>A	ENSP00000508987.1:p.Val473Ile
ENST00000689296.1:c.1417G>A	ENSP00000510609.1:p.Val473Ile
ENST00000689740.1:c.1465G>A	ENSP00000510300.1:p.Val489Ile
ENST00000693680.1:c.1465G>A	ENSP00000509539.1:p.Val489Ile
ENST00000361373.9:c.1606G>A MANE Select	ENSP00000355296.3:p.Val536Ile
ENST00000429277.7:c.1276G>A	ENSP00000401437.3:p.Val426Ile
ENST00000623056.4:c.1621G>A	ENSP00000485500.1:p.Val541Ile
ENST00000263066.10:c.1276G>A	ENSP00000263066.6:p.Val426Ile
ENST00000361373.8:c.1606G>A	ENSP00000355296.3:p.Val536Ile
ENST00000429277.6:c.1621G>A	ENSP00000401437.2:p.Val541Ile
ENST00000623056.3:c.1621G>A	ENSP00000485500.1:p.Val541Ile
NM_001080114.1:c.1276G>A	NP_001073583.1:p.Val426Ile
NM_001171610.1:c.1621G>A	NP_001165081.1:p.Val541Ile
NM_007078.2:c.1606G>A , LRG_385t1:c.1606G>A	NP_009009.1:p.Val536Ile
XM_005269464.3:c.1606G>A	XP_005269521.1:p.Val536Ile
XM_005269466.3:c.1417G>A	XP_005269523.1:p.Val473Ile
XM_011539184.1:c.1858G>A	XP_011537486.1:p.Val620Ile
XM_011539185.1:c.1858G>A	XP_011537487.1:p.Val620Ile
XM_011539186.1:c.1810G>A	XP_011537488.1:p.Val604Ile
XM_011539187.1:c.1669G>A	XP_011537489.1:p.Val557Ile
XM_011539188.1:c.1654G>A	XP_011537490.1:p.Val552Ile
XM_011539189.1:c.1513G>A	XP_011537491.1:p.Val505Ile
XM_011539190.1:c.1465G>A	XP_011537492.1:p.Val489Ile
XM_011539191.1:c.1324G>A	XP_011537493.1:p.Val442Ile
XM_011539192.1:c.1309G>A	XP_011537494.1:p.Val437Ile
XM_011539193.1:c.814G>A	XP_011537495.1:p.Val272Ile
XM_011539194.1:c.625G>A	XP_011537496.1:p.Val209Ile
XM_005269464.4:c.1606G>A	XP_005269521.1:p.Val536Ile
XM_005269466.4:c.1417G>A	XP_005269523.1:p.Val473Ile
XM_011539184.2:c.1858G>A	XP_011537486.1:p.Val620Ile
XM_011539185.2:c.1858G>A	XP_011537487.1:p.Val620Ile
XM_011539186.2:c.1810G>A	XP_011537488.1:p.Val604Ile
XM_011539187.2:c.1669G>A	XP_011537489.1:p.Val557Ile
XM_011539188.2:c.1654G>A	XP_011537490.1:p.Val552Ile
XM_011539190.2:c.1465G>A	XP_011537492.1:p.Val489Ile
XM_011539191.2:c.1324G>A	XP_011537493.1:p.Val442Ile
XM_017015606.1:c.1654G>A	XP_016871095.1:p.Val552Ile
XM_017015607.1:c.814G>A	XP_016871096.1:p.Val272Ile
XM_024447785.1:c.1513G>A	XP_024303553.1:p.Val505Ile
XM_024447786.1:c.1276G>A	XP_024303554.1:p.Val426Ile
NM_001080114.2:c.1276G>A	NP_001073583.1:p.Val426Ile
NM_001171610.2:c.1621G>A	NP_001165081.1:p.Val541Ile
NM_001368064.1:c.1417G>A	NP_001354993.1:p.Val473Ile
NM_001368065.1:c.1417G>A	NP_001354994.1:p.Val473Ile
NM_001368066.1:c.1465G>A	NP_001354995.1:p.Val489Ile
NM_007078.3:c.1606G>A MANE Select	NP_009009.1:p.Val536Ile