Canonical Allele Identifier: CA377450777

Gene: LDB3

Linked Data

• dbSNP Id: rs1846883438
• gnomAD v4: 10-86716546-C-T
• MyVariant Identifiers: chr10:g.88476303C>T (hg19) ; chr10:g.86716546C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.86716546C>T , CM000672.2:g.86716546C>T	GRCh38
NC_000010.10:g.88476303C>T , CM000672.1:g.88476303C>T	GRCh37
NC_000010.9:g.88466283C>T	NCBI36
NG_008876.1:g.52983C>T , LRG_385:g.52983C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687154.1:n.515-2181C>T
ENST00000688001.1:c.1262C>T	ENSP00000508987.1:p.Pro421Leu
ENST00000689296.1:c.1262C>T	ENSP00000510609.1:p.Pro421Leu
ENST00000689740.1:c.1310C>T	ENSP00000510300.1:p.Pro437Leu
ENST00000693680.1:c.1310C>T	ENSP00000509539.1:p.Pro437Leu
ENST00000361373.9:c.1451C>T MANE Select	ENSP00000355296.3:p.Pro484Leu
ENST00000429277.7:c.1121C>T	ENSP00000401437.3:p.Pro374Leu
ENST00000623056.4:c.1466C>T	ENSP00000485500.1:p.Pro489Leu
ENST00000263066.10:c.1121C>T	ENSP00000263066.6:p.Pro374Leu
ENST00000361373.8:c.1451C>T	ENSP00000355296.3:p.Pro484Leu
ENST00000429277.6:c.1466C>T	ENSP00000401437.2:p.Pro489Leu
ENST00000623056.3:c.1466C>T	ENSP00000485500.1:p.Pro489Leu
NM_001080114.1:c.1121C>T	NP_001073583.1:p.Pro374Leu
NM_001171610.1:c.1466C>T	NP_001165081.1:p.Pro489Leu
NM_007078.2:c.1451C>T , LRG_385t1:c.1451C>T	NP_009009.1:p.Pro484Leu
XM_005269464.3:c.1451C>T	XP_005269521.1:p.Pro484Leu
XM_005269466.3:c.1262C>T	XP_005269523.1:p.Pro421Leu
XM_011539184.1:c.1703C>T	XP_011537486.1:p.Pro568Leu
XM_011539185.1:c.1703C>T	XP_011537487.1:p.Pro568Leu
XM_011539186.1:c.1655C>T	XP_011537488.1:p.Pro552Leu
XM_011539187.1:c.1514C>T	XP_011537489.1:p.Pro505Leu
XM_011539188.1:c.1499C>T	XP_011537490.1:p.Pro500Leu
XM_011539189.1:c.1358C>T	XP_011537491.1:p.Pro453Leu
XM_011539190.1:c.1310C>T	XP_011537492.1:p.Pro437Leu
XM_011539191.1:c.1169C>T	XP_011537493.1:p.Pro390Leu
XM_011539192.1:c.1154C>T	XP_011537494.1:p.Pro385Leu
XM_011539193.1:c.659C>T	XP_011537495.1:p.Pro220Leu
XM_011539194.1:c.470C>T	XP_011537496.1:p.Pro157Leu
XM_005269464.4:c.1451C>T	XP_005269521.1:p.Pro484Leu
XM_005269466.4:c.1262C>T	XP_005269523.1:p.Pro421Leu
XM_011539184.2:c.1703C>T	XP_011537486.1:p.Pro568Leu
XM_011539185.2:c.1703C>T	XP_011537487.1:p.Pro568Leu
XM_011539186.2:c.1655C>T	XP_011537488.1:p.Pro552Leu
XM_011539187.2:c.1514C>T	XP_011537489.1:p.Pro505Leu
XM_011539188.2:c.1499C>T	XP_011537490.1:p.Pro500Leu
XM_011539190.2:c.1310C>T	XP_011537492.1:p.Pro437Leu
XM_011539191.2:c.1169C>T	XP_011537493.1:p.Pro390Leu
XM_017015606.1:c.1499C>T	XP_016871095.1:p.Pro500Leu
XM_017015607.1:c.659C>T	XP_016871096.1:p.Pro220Leu
XM_024447785.1:c.1358C>T	XP_024303553.1:p.Pro453Leu
XM_024447786.1:c.1121C>T	XP_024303554.1:p.Pro374Leu
NM_001080114.2:c.1121C>T	NP_001073583.1:p.Pro374Leu
NM_001171610.2:c.1466C>T	NP_001165081.1:p.Pro489Leu
NM_001368064.1:c.1262C>T	NP_001354993.1:p.Pro421Leu
NM_001368065.1:c.1262C>T	NP_001354994.1:p.Pro421Leu
NM_001368066.1:c.1310C>T	NP_001354995.1:p.Pro437Leu
NM_007078.3:c.1451C>T MANE Select	NP_009009.1:p.Pro484Leu