Canonical Allele Identifier: CA377452700

Gene: LDB3

Linked Data

• ClinVar Variation Id: 1984908
• ClinVar RCV Id: RCV002756933
• MyVariant Identifiers: chr10:g.88477879A>G (hg19) ; chr10:g.86718122A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86718122A>G , CM000672.2:g.86718122A>G	GRCh38
NC_000010.10:g.88477879A>G , CM000672.1:g.88477879A>G	GRCh37
NC_000010.9:g.88467859A>G	NCBI36
NG_008876.1:g.54559A>G , LRG_385:g.54559A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000687154.1:n.515-605A>G
ENST00000688001.1:c.1646A>G	ENSP00000508987.1:p.Lys549Arg
ENST00000689296.1:c.1646A>G	ENSP00000510609.1:p.Lys549Arg
ENST00000689740.1:c.1694A>G	ENSP00000510300.1:p.Lys565Arg
ENST00000693680.1:c.1694A>G	ENSP00000509539.1:p.Lys565Arg
ENST00000361373.9:c.1835A>G MANE Select	ENSP00000355296.3:p.Lys612Arg
ENST00000429277.7:c.1505A>G	ENSP00000401437.3:p.Lys502Arg
ENST00000623056.4:c.1850A>G	ENSP00000485500.1:p.Lys617Arg
ENST00000263066.10:c.1505A>G	ENSP00000263066.6:p.Lys502Arg
ENST00000361373.8:c.1835A>G	ENSP00000355296.3:p.Lys612Arg
ENST00000429277.6:c.1850A>G	ENSP00000401437.2:p.Lys617Arg
ENST00000623056.3:c.1850A>G	ENSP00000485500.1:p.Lys617Arg
NM_001080114.1:c.1505A>G	NP_001073583.1:p.Lys502Arg
NM_001171610.1:c.1850A>G	NP_001165081.1:p.Lys617Arg
NM_007078.2:c.1835A>G , LRG_385t1:c.1835A>G	NP_009009.1:p.Lys612Arg
XM_005269464.3:c.1835A>G	XP_005269521.1:p.Lys612Arg
XM_005269466.3:c.1646A>G	XP_005269523.1:p.Lys549Arg
XM_011539184.1:c.2087A>G	XP_011537486.1:p.Lys696Arg
XM_011539185.1:c.2087A>G	XP_011537487.1:p.Lys696Arg
XM_011539186.1:c.2039A>G	XP_011537488.1:p.Lys680Arg
XM_011539187.1:c.1898A>G	XP_011537489.1:p.Lys633Arg
XM_011539188.1:c.1883A>G	XP_011537490.1:p.Lys628Arg
XM_011539189.1:c.1742A>G	XP_011537491.1:p.Lys581Arg
XM_011539190.1:c.1694A>G	XP_011537492.1:p.Lys565Arg
XM_011539191.1:c.1553A>G	XP_011537493.1:p.Lys518Arg
XM_011539192.1:c.1538A>G	XP_011537494.1:p.Lys513Arg
XM_011539193.1:c.1043A>G	XP_011537495.1:p.Lys348Arg
XM_011539194.1:c.854A>G	XP_011537496.1:p.Lys285Arg
XM_005269464.4:c.1835A>G	XP_005269521.1:p.Lys612Arg
XM_005269466.4:c.1646A>G	XP_005269523.1:p.Lys549Arg
XM_011539184.2:c.2087A>G	XP_011537486.1:p.Lys696Arg
XM_011539185.2:c.2087A>G	XP_011537487.1:p.Lys696Arg
XM_011539186.2:c.2039A>G	XP_011537488.1:p.Lys680Arg
XM_011539187.2:c.1898A>G	XP_011537489.1:p.Lys633Arg
XM_011539188.2:c.1883A>G	XP_011537490.1:p.Lys628Arg
XM_011539190.2:c.1694A>G	XP_011537492.1:p.Lys565Arg
XM_011539191.2:c.1553A>G	XP_011537493.1:p.Lys518Arg
XM_017015606.1:c.1883A>G	XP_016871095.1:p.Lys628Arg
XM_017015607.1:c.1043A>G	XP_016871096.1:p.Lys348Arg
XM_024447785.1:c.1742A>G	XP_024303553.1:p.Lys581Arg
XM_024447786.1:c.1505A>G	XP_024303554.1:p.Lys502Arg
NM_001080114.2:c.1505A>G	NP_001073583.1:p.Lys502Arg
NM_001171610.2:c.1850A>G	NP_001165081.1:p.Lys617Arg
NM_001368064.1:c.1646A>G	NP_001354993.1:p.Lys549Arg
NM_001368065.1:c.1646A>G	NP_001354994.1:p.Lys549Arg
NM_001368066.1:c.1694A>G	NP_001354995.1:p.Lys565Arg
NM_007078.3:c.1835A>G MANE Select	NP_009009.1:p.Lys612Arg