Canonical Allele Identifier: CA470375435

Gene: LDB3

Linked Data

• ClinVar Variation Id: 1112725
• ClinVar RCV Id: RCV001439787
• dbSNP Id: rs2132482407
• COSMIC: COSM3441219 ; COSM3441220 ; COSM3441221
• MyVariant Identifiers: chr10:g.88476310C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86716553C>T , CM000672.2:g.86716553C>T	GRCh38
NC_000010.10:g.88476310C>T , CM000672.1:g.88476310C>T	GRCh37
NC_000010.9:g.88466290C>T	NCBI36
NG_008876.1:g.52990C>T , LRG_385:g.52990C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687154.1:n.515-2174C>T
ENST00000688001.1:c.1269C>T	ENSP00000508987.1:p.Ser423=
ENST00000689296.1:c.1269C>T	ENSP00000510609.1:p.Ser423=
ENST00000689740.1:c.1317C>T	ENSP00000510300.1:p.Ser439=
ENST00000693680.1:c.1317C>T	ENSP00000509539.1:p.Ser439=
ENST00000361373.9:c.1458C>T MANE Select	ENSP00000355296.3:p.Ser486=
ENST00000429277.7:c.1128C>T	ENSP00000401437.3:p.Ser376=
ENST00000623056.4:c.1473C>T	ENSP00000485500.1:p.Ser491=
ENST00000263066.10:c.1128C>T	ENSP00000263066.6:p.Ser376=
ENST00000361373.8:c.1458C>T	ENSP00000355296.3:p.Ser486=
ENST00000429277.6:c.1473C>T	ENSP00000401437.2:p.Ser491=
ENST00000623056.3:c.1473C>T	ENSP00000485500.1:p.Ser491=
NM_001080114.1:c.1128C>T	NP_001073583.1:p.Ser376=
NM_001171610.1:c.1473C>T	NP_001165081.1:p.Ser491=
NM_007078.2:c.1458C>T , LRG_385t1:c.1458C>T	NP_009009.1:p.Ser486=
XM_005269464.3:c.1458C>T	XP_005269521.1:p.Ser486=
XM_005269466.3:c.1269C>T	XP_005269523.1:p.Ser423=
XM_011539184.1:c.1710C>T	XP_011537486.1:p.Ser570=
XM_011539185.1:c.1710C>T	XP_011537487.1:p.Ser570=
XM_011539186.1:c.1662C>T	XP_011537488.1:p.Ser554=
XM_011539187.1:c.1521C>T	XP_011537489.1:p.Ser507=
XM_011539188.1:c.1506C>T	XP_011537490.1:p.Ser502=
XM_011539189.1:c.1365C>T	XP_011537491.1:p.Ser455=
XM_011539190.1:c.1317C>T	XP_011537492.1:p.Ser439=
XM_011539191.1:c.1176C>T	XP_011537493.1:p.Ser392=
XM_011539192.1:c.1161C>T	XP_011537494.1:p.Ser387=
XM_011539193.1:c.666C>T	XP_011537495.1:p.Ser222=
XM_011539194.1:c.477C>T	XP_011537496.1:p.Ser159=
XM_005269464.4:c.1458C>T	XP_005269521.1:p.Ser486=
XM_005269466.4:c.1269C>T	XP_005269523.1:p.Ser423=
XM_011539184.2:c.1710C>T	XP_011537486.1:p.Ser570=
XM_011539185.2:c.1710C>T	XP_011537487.1:p.Ser570=
XM_011539186.2:c.1662C>T	XP_011537488.1:p.Ser554=
XM_011539187.2:c.1521C>T	XP_011537489.1:p.Ser507=
XM_011539188.2:c.1506C>T	XP_011537490.1:p.Ser502=
XM_011539190.2:c.1317C>T	XP_011537492.1:p.Ser439=
XM_011539191.2:c.1176C>T	XP_011537493.1:p.Ser392=
XM_017015606.1:c.1506C>T	XP_016871095.1:p.Ser502=
XM_017015607.1:c.666C>T	XP_016871096.1:p.Ser222=
XM_024447785.1:c.1365C>T	XP_024303553.1:p.Ser455=
XM_024447786.1:c.1128C>T	XP_024303554.1:p.Ser376=
NM_001080114.2:c.1128C>T	NP_001073583.1:p.Ser376=
NM_001171610.2:c.1473C>T	NP_001165081.1:p.Ser491=
NM_001368064.1:c.1269C>T	NP_001354993.1:p.Ser423=
NM_001368065.1:c.1269C>T	NP_001354994.1:p.Ser423=
NM_001368066.1:c.1317C>T	NP_001354995.1:p.Ser439=
NM_007078.3:c.1458C>T MANE Select	NP_009009.1:p.Ser486=