Canonical Allele Identifier: CA136539

Gene: LDB3

Linked Data

• ClinVar Variation Id: 45527
• ClinVar RCV Id: RCV000038736 ; RCV000171997 ; RCV000623075 ; RCV000619692 ; RCV000988403 ; RCV001170178 ; RCV001293341
• dbSNP Id: rs138951890
• ExAC: 10:88476387 A / C
• gnomAD v2: 10-88476387-A-C
• gnomAD v3: 10-86716630-A-C
• gnomAD v4: 10-86716630-A-C
• MyVariant Identifiers: chr10:g.88476387A>C (hg19) ; chr10:g.86716630A>C (hg38)
• PubMed: PMID:20474083 ; PMID:23861362 ; PMID:24503780 ; PMID:27884173 ; PMID:27896284

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86716630A>C , CM000672.2:g.86716630A>C	GRCh38
NC_000010.10:g.88476387A>C , CM000672.1:g.88476387A>C	GRCh37
NC_000010.9:g.88466367A>C	NCBI36
NG_008876.1:g.53067A>C , LRG_385:g.53067A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687154.1:n.515-2097A>C
ENST00000688001.1:c.1346A>C	ENSP00000508987.1:p.Gln449Pro
ENST00000689296.1:c.1346A>C	ENSP00000510609.1:p.Gln449Pro
ENST00000689740.1:c.1394A>C	ENSP00000510300.1:p.Gln465Pro
ENST00000693680.1:c.1394A>C	ENSP00000509539.1:p.Gln465Pro
ENST00000361373.9:c.1535A>C MANE Select	ENSP00000355296.3:p.Gln512Pro
ENST00000429277.7:c.1205A>C	ENSP00000401437.3:p.Gln402Pro
ENST00000623056.4:c.1550A>C	ENSP00000485500.1:p.Gln517Pro
ENST00000263066.10:c.1205A>C	ENSP00000263066.6:p.Gln402Pro
ENST00000361373.8:c.1535A>C	ENSP00000355296.3:p.Gln512Pro
ENST00000429277.6:c.1550A>C	ENSP00000401437.2:p.Gln517Pro
ENST00000623056.3:c.1550A>C	ENSP00000485500.1:p.Gln517Pro
NM_001080114.1:c.1205A>C	NP_001073583.1:p.Gln402Pro
NM_001171610.1:c.1550A>C	NP_001165081.1:p.Gln517Pro
NM_007078.2:c.1535A>C , LRG_385t1:c.1535A>C	NP_009009.1:p.Gln512Pro
XM_005269464.3:c.1535A>C	XP_005269521.1:p.Gln512Pro
XM_005269466.3:c.1346A>C	XP_005269523.1:p.Gln449Pro
XM_011539184.1:c.1787A>C	XP_011537486.1:p.Gln596Pro
XM_011539185.1:c.1787A>C	XP_011537487.1:p.Gln596Pro
XM_011539186.1:c.1739A>C	XP_011537488.1:p.Gln580Pro
XM_011539187.1:c.1598A>C	XP_011537489.1:p.Gln533Pro
XM_011539188.1:c.1583A>C	XP_011537490.1:p.Gln528Pro
XM_011539189.1:c.1442A>C	XP_011537491.1:p.Gln481Pro
XM_011539190.1:c.1394A>C	XP_011537492.1:p.Gln465Pro
XM_011539191.1:c.1253A>C	XP_011537493.1:p.Gln418Pro
XM_011539192.1:c.1238A>C	XP_011537494.1:p.Gln413Pro
XM_011539193.1:c.743A>C	XP_011537495.1:p.Gln248Pro
XM_011539194.1:c.554A>C	XP_011537496.1:p.Gln185Pro
XM_005269464.4:c.1535A>C	XP_005269521.1:p.Gln512Pro
XM_005269466.4:c.1346A>C	XP_005269523.1:p.Gln449Pro
XM_011539184.2:c.1787A>C	XP_011537486.1:p.Gln596Pro
XM_011539185.2:c.1787A>C	XP_011537487.1:p.Gln596Pro
XM_011539186.2:c.1739A>C	XP_011537488.1:p.Gln580Pro
XM_011539187.2:c.1598A>C	XP_011537489.1:p.Gln533Pro
XM_011539188.2:c.1583A>C	XP_011537490.1:p.Gln528Pro
XM_011539190.2:c.1394A>C	XP_011537492.1:p.Gln465Pro
XM_011539191.2:c.1253A>C	XP_011537493.1:p.Gln418Pro
XM_017015606.1:c.1583A>C	XP_016871095.1:p.Gln528Pro
XM_017015607.1:c.743A>C	XP_016871096.1:p.Gln248Pro
XM_024447785.1:c.1442A>C	XP_024303553.1:p.Gln481Pro
XM_024447786.1:c.1205A>C	XP_024303554.1:p.Gln402Pro
NM_001080114.2:c.1205A>C	NP_001073583.1:p.Gln402Pro
NM_001171610.2:c.1550A>C	NP_001165081.1:p.Gln517Pro
NM_001368064.1:c.1346A>C	NP_001354993.1:p.Gln449Pro
NM_001368065.1:c.1346A>C	NP_001354994.1:p.Gln449Pro
NM_001368066.1:c.1394A>C	NP_001354995.1:p.Gln465Pro
NM_007078.3:c.1535A>C MANE Select	NP_009009.1:p.Gln512Pro