Canonical Allele Identifier: CA5585171

Gene: LDB3

Linked Data

• ClinVar Variation Id: 426972
• ClinVar RCV Id: RCV000489670 ; RCV000763675 ; RCV000852432 ; RCV001320697 ; RCV002395189
• dbSNP Id: rs755362259
• ExAC: 10:88476354 C / T
• gnomAD v2: 10-88476354-C-T
• gnomAD v3: 10-86716597-C-T
• gnomAD v4: 10-86716597-C-T
• MyVariant Identifiers: chr10:g.88476354C>T (hg19) ; chr10:g.86716597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86716597C>T , CM000672.2:g.86716597C>T	GRCh38
NC_000010.10:g.88476354C>T , CM000672.1:g.88476354C>T	GRCh37
NC_000010.9:g.88466334C>T	NCBI36
NG_008876.1:g.53034C>T , LRG_385:g.53034C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000687154.1:n.515-2130C>T
ENST00000688001.1:c.1313C>T	ENSP00000508987.1:p.Ala438Val
ENST00000689296.1:c.1313C>T	ENSP00000510609.1:p.Ala438Val
ENST00000689740.1:c.1361C>T	ENSP00000510300.1:p.Ala454Val
ENST00000693680.1:c.1361C>T	ENSP00000509539.1:p.Ala454Val
ENST00000361373.9:c.1502C>T MANE Select	ENSP00000355296.3:p.Ala501Val
ENST00000429277.7:c.1172C>T	ENSP00000401437.3:p.Ala391Val
ENST00000623056.4:c.1517C>T	ENSP00000485500.1:p.Ala506Val
ENST00000263066.10:c.1172C>T	ENSP00000263066.6:p.Ala391Val
ENST00000361373.8:c.1502C>T	ENSP00000355296.3:p.Ala501Val
ENST00000429277.6:c.1517C>T	ENSP00000401437.2:p.Ala506Val
ENST00000623056.3:c.1517C>T	ENSP00000485500.1:p.Ala506Val
NM_001080114.1:c.1172C>T	NP_001073583.1:p.Ala391Val
NM_001171610.1:c.1517C>T	NP_001165081.1:p.Ala506Val
NM_007078.2:c.1502C>T , LRG_385t1:c.1502C>T	NP_009009.1:p.Ala501Val
XM_005269464.3:c.1502C>T	XP_005269521.1:p.Ala501Val
XM_005269466.3:c.1313C>T	XP_005269523.1:p.Ala438Val
XM_011539184.1:c.1754C>T	XP_011537486.1:p.Ala585Val
XM_011539185.1:c.1754C>T	XP_011537487.1:p.Ala585Val
XM_011539186.1:c.1706C>T	XP_011537488.1:p.Ala569Val
XM_011539187.1:c.1565C>T	XP_011537489.1:p.Ala522Val
XM_011539188.1:c.1550C>T	XP_011537490.1:p.Ala517Val
XM_011539189.1:c.1409C>T	XP_011537491.1:p.Ala470Val
XM_011539190.1:c.1361C>T	XP_011537492.1:p.Ala454Val
XM_011539191.1:c.1220C>T	XP_011537493.1:p.Ala407Val
XM_011539192.1:c.1205C>T	XP_011537494.1:p.Ala402Val
XM_011539193.1:c.710C>T	XP_011537495.1:p.Ala237Val
XM_011539194.1:c.521C>T	XP_011537496.1:p.Ala174Val
XM_005269464.4:c.1502C>T	XP_005269521.1:p.Ala501Val
XM_005269466.4:c.1313C>T	XP_005269523.1:p.Ala438Val
XM_011539184.2:c.1754C>T	XP_011537486.1:p.Ala585Val
XM_011539185.2:c.1754C>T	XP_011537487.1:p.Ala585Val
XM_011539186.2:c.1706C>T	XP_011537488.1:p.Ala569Val
XM_011539187.2:c.1565C>T	XP_011537489.1:p.Ala522Val
XM_011539188.2:c.1550C>T	XP_011537490.1:p.Ala517Val
XM_011539190.2:c.1361C>T	XP_011537492.1:p.Ala454Val
XM_011539191.2:c.1220C>T	XP_011537493.1:p.Ala407Val
XM_017015606.1:c.1550C>T	XP_016871095.1:p.Ala517Val
XM_017015607.1:c.710C>T	XP_016871096.1:p.Ala237Val
XM_024447785.1:c.1409C>T	XP_024303553.1:p.Ala470Val
XM_024447786.1:c.1172C>T	XP_024303554.1:p.Ala391Val
NM_001080114.2:c.1172C>T	NP_001073583.1:p.Ala391Val
NM_001171610.2:c.1517C>T	NP_001165081.1:p.Ala506Val
NM_001368064.1:c.1313C>T	NP_001354993.1:p.Ala438Val
NM_001368065.1:c.1313C>T	NP_001354994.1:p.Ala438Val
NM_001368066.1:c.1361C>T	NP_001354995.1:p.Ala454Val
NM_007078.3:c.1502C>T MANE Select	NP_009009.1:p.Ala501Val