Canonical Allele Identifier: CA377451039

Gene: LDB3

Linked Data

• ClinVar Variation Id: 2563921
• ClinVar RCV Id: RCV003306250
• MyVariant Identifiers: chr10:g.88476350T>C (hg19) ; chr10:g.86716593T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86716593T>C , CM000672.2:g.86716593T>C	GRCh38
NC_000010.10:g.88476350T>C , CM000672.1:g.88476350T>C	GRCh37
NC_000010.9:g.88466330T>C	NCBI36
NG_008876.1:g.53030T>C , LRG_385:g.53030T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687154.1:n.515-2134T>C
ENST00000688001.1:c.1309T>C	ENSP00000508987.1:p.Phe437Leu
ENST00000689296.1:c.1309T>C	ENSP00000510609.1:p.Phe437Leu
ENST00000689740.1:c.1357T>C	ENSP00000510300.1:p.Phe453Leu
ENST00000693680.1:c.1357T>C	ENSP00000509539.1:p.Phe453Leu
ENST00000361373.9:c.1498T>C MANE Select	ENSP00000355296.3:p.Phe500Leu
ENST00000429277.7:c.1168T>C	ENSP00000401437.3:p.Phe390Leu
ENST00000623056.4:c.1513T>C	ENSP00000485500.1:p.Phe505Leu
ENST00000263066.10:c.1168T>C	ENSP00000263066.6:p.Phe390Leu
ENST00000361373.8:c.1498T>C	ENSP00000355296.3:p.Phe500Leu
ENST00000429277.6:c.1513T>C	ENSP00000401437.2:p.Phe505Leu
ENST00000623056.3:c.1513T>C	ENSP00000485500.1:p.Phe505Leu
NM_001080114.1:c.1168T>C	NP_001073583.1:p.Phe390Leu
NM_001171610.1:c.1513T>C	NP_001165081.1:p.Phe505Leu
NM_007078.2:c.1498T>C , LRG_385t1:c.1498T>C	NP_009009.1:p.Phe500Leu
XM_005269464.3:c.1498T>C	XP_005269521.1:p.Phe500Leu
XM_005269466.3:c.1309T>C	XP_005269523.1:p.Phe437Leu
XM_011539184.1:c.1750T>C	XP_011537486.1:p.Phe584Leu
XM_011539185.1:c.1750T>C	XP_011537487.1:p.Phe584Leu
XM_011539186.1:c.1702T>C	XP_011537488.1:p.Phe568Leu
XM_011539187.1:c.1561T>C	XP_011537489.1:p.Phe521Leu
XM_011539188.1:c.1546T>C	XP_011537490.1:p.Phe516Leu
XM_011539189.1:c.1405T>C	XP_011537491.1:p.Phe469Leu
XM_011539190.1:c.1357T>C	XP_011537492.1:p.Phe453Leu
XM_011539191.1:c.1216T>C	XP_011537493.1:p.Phe406Leu
XM_011539192.1:c.1201T>C	XP_011537494.1:p.Phe401Leu
XM_011539193.1:c.706T>C	XP_011537495.1:p.Phe236Leu
XM_011539194.1:c.517T>C	XP_011537496.1:p.Phe173Leu
XM_005269464.4:c.1498T>C	XP_005269521.1:p.Phe500Leu
XM_005269466.4:c.1309T>C	XP_005269523.1:p.Phe437Leu
XM_011539184.2:c.1750T>C	XP_011537486.1:p.Phe584Leu
XM_011539185.2:c.1750T>C	XP_011537487.1:p.Phe584Leu
XM_011539186.2:c.1702T>C	XP_011537488.1:p.Phe568Leu
XM_011539187.2:c.1561T>C	XP_011537489.1:p.Phe521Leu
XM_011539188.2:c.1546T>C	XP_011537490.1:p.Phe516Leu
XM_011539190.2:c.1357T>C	XP_011537492.1:p.Phe453Leu
XM_011539191.2:c.1216T>C	XP_011537493.1:p.Phe406Leu
XM_017015606.1:c.1546T>C	XP_016871095.1:p.Phe516Leu
XM_017015607.1:c.706T>C	XP_016871096.1:p.Phe236Leu
XM_024447785.1:c.1405T>C	XP_024303553.1:p.Phe469Leu
XM_024447786.1:c.1168T>C	XP_024303554.1:p.Phe390Leu
NM_001080114.2:c.1168T>C	NP_001073583.1:p.Phe390Leu
NM_001171610.2:c.1513T>C	NP_001165081.1:p.Phe505Leu
NM_001368064.1:c.1309T>C	NP_001354993.1:p.Phe437Leu
NM_001368065.1:c.1309T>C	NP_001354994.1:p.Phe437Leu
NM_001368066.1:c.1357T>C	NP_001354995.1:p.Phe453Leu
NM_007078.3:c.1498T>C MANE Select	NP_009009.1:p.Phe500Leu