Canonical Allele Identifier: CA377451224
Gene: LDB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86716636T>C , CM000672.2:g.86716636T>C GRCh38
NC_000010.10:g.88476393T>C , CM000672.1:g.88476393T>C GRCh37
NC_000010.9:g.88466373T>C NCBI36
NG_008876.1:g.53073T>C , LRG_385:g.53073T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000687154.1:n.515-2091T>C
ENST00000688001.1:c.1352T>C ENSP00000508987.1:p.Leu451Pro
ENST00000689296.1:c.1352T>C ENSP00000510609.1:p.Leu451Pro
ENST00000689740.1:c.1400T>C ENSP00000510300.1:p.Leu467Pro
ENST00000693680.1:c.1400T>C ENSP00000509539.1:p.Leu467Pro
ENST00000361373.9:c.1541T>C MANE Select ENSP00000355296.3:p.Leu514Pro
ENST00000429277.7:c.1211T>C ENSP00000401437.3:p.Leu404Pro
ENST00000623056.4:c.1556T>C ENSP00000485500.1:p.Leu519Pro
ENST00000263066.10:c.1211T>C ENSP00000263066.6:p.Leu404Pro
ENST00000361373.8:c.1541T>C ENSP00000355296.3:p.Leu514Pro
ENST00000429277.6:c.1556T>C ENSP00000401437.2:p.Leu519Pro
ENST00000623056.3:c.1556T>C ENSP00000485500.1:p.Leu519Pro
NM_001080114.1:c.1211T>C NP_001073583.1:p.Leu404Pro
NM_001171610.1:c.1556T>C NP_001165081.1:p.Leu519Pro
NM_007078.2:c.1541T>C , LRG_385t1:c.1541T>C NP_009009.1:p.Leu514Pro
XM_005269464.3:c.1541T>C XP_005269521.1:p.Leu514Pro
XM_005269466.3:c.1352T>C XP_005269523.1:p.Leu451Pro
XM_011539184.1:c.1793T>C XP_011537486.1:p.Leu598Pro
XM_011539185.1:c.1793T>C XP_011537487.1:p.Leu598Pro
XM_011539186.1:c.1745T>C XP_011537488.1:p.Leu582Pro
XM_011539187.1:c.1604T>C XP_011537489.1:p.Leu535Pro
XM_011539188.1:c.1589T>C XP_011537490.1:p.Leu530Pro
XM_011539189.1:c.1448T>C XP_011537491.1:p.Leu483Pro
XM_011539190.1:c.1400T>C XP_011537492.1:p.Leu467Pro
XM_011539191.1:c.1259T>C XP_011537493.1:p.Leu420Pro
XM_011539192.1:c.1244T>C XP_011537494.1:p.Leu415Pro
XM_011539193.1:c.749T>C XP_011537495.1:p.Leu250Pro
XM_011539194.1:c.560T>C XP_011537496.1:p.Leu187Pro
XM_005269464.4:c.1541T>C XP_005269521.1:p.Leu514Pro
XM_005269466.4:c.1352T>C XP_005269523.1:p.Leu451Pro
XM_011539184.2:c.1793T>C XP_011537486.1:p.Leu598Pro
XM_011539185.2:c.1793T>C XP_011537487.1:p.Leu598Pro
XM_011539186.2:c.1745T>C XP_011537488.1:p.Leu582Pro
XM_011539187.2:c.1604T>C XP_011537489.1:p.Leu535Pro
XM_011539188.2:c.1589T>C XP_011537490.1:p.Leu530Pro
XM_011539190.2:c.1400T>C XP_011537492.1:p.Leu467Pro
XM_011539191.2:c.1259T>C XP_011537493.1:p.Leu420Pro
XM_017015606.1:c.1589T>C XP_016871095.1:p.Leu530Pro
XM_017015607.1:c.749T>C XP_016871096.1:p.Leu250Pro
XM_024447785.1:c.1448T>C XP_024303553.1:p.Leu483Pro
XM_024447786.1:c.1211T>C XP_024303554.1:p.Leu404Pro
NM_001080114.2:c.1211T>C NP_001073583.1:p.Leu404Pro
NM_001171610.2:c.1556T>C NP_001165081.1:p.Leu519Pro
NM_001368064.1:c.1352T>C NP_001354993.1:p.Leu451Pro
NM_001368065.1:c.1352T>C NP_001354994.1:p.Leu451Pro
NM_001368066.1:c.1400T>C NP_001354995.1:p.Leu467Pro
NM_007078.3:c.1541T>C MANE Select NP_009009.1:p.Leu514Pro