Canonical Allele Identifier: CA400480710
Community Standard Title: NM_032043.3(BRIP1):c.2936A>G (p.Lys979Arg)
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61684110T>C , CM000679.2:g.61684110T>C GRCh38
NC_000017.10:g.59761471T>C , CM000679.1:g.59761471T>C GRCh37
NC_000017.9:g.57116253T>C NCBI36
NG_007409.2:g.184450A>G , LRG_300:g.184450A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.2936A>G MANE Select NP_114432.2:p.Lys979Arg
ENST00000259008.7:c.2936A>G MANE Select ENSP00000259008.2:p.Lys979Arg
NM_032043.2:c.2936A>G , LRG_300t1:c.2936A>G NP_114432.2:p.Lys979Arg
ENST00000259008.6:c.2936A>G ENSP00000259008.2:p.Lys979Arg
ENST00000682073.1:n.1676A>G
ENST00000682453.1:c.2936A>G ENSP00000506943.1:p.Lys979Arg
ENST00000682477.1:c.*2362A>G ENSP00000507075.1:n.*2362A>G
ENST00000682589.1:n.8813A>G
ENST00000682755.1:c.2714A>G ENSP00000507660.1:p.Lys905Arg
ENST00000682989.1:c.*27A>G ENSP00000507786.1:n.*27A>G
ENST00000683039.1:c.2936A>G ENSP00000508303.1:p.Lys979Arg
ENST00000683235.1:c.*351A>G ENSP00000507646.1:n.*351A>G
ENST00000683535.1:n.1066A>G
ENST00000684584.1:c.2099A>G ENSP00000508044.1:p.Lys700Arg
ENST00000684626.1:n.1182A>G
ENST00000684769.1:c.1126A>G ENSP00000507691.1:n.1126A>G
XM_011525332.1:c.2996A>G XP_011523634.1:p.Lys999Arg
XM_011525332.3:c.2996A>G XP_011523634.1:p.Lys999Arg
XM_011525333.1:c.2996A>G XP_011523635.1:p.Lys999Arg
XM_011525333.3:c.2996A>G XP_011523635.1:p.Lys999Arg
XM_011525334.1:c.2996A>G XP_011523636.1:p.Lys999Arg
XM_011525334.2:c.2996A>G XP_011523636.1:p.Lys999Arg
XM_011525335.1:c.2936A>G XP_011523637.1:p.Lys979Arg
XM_011525335.3:c.2936A>G XP_011523637.1:p.Lys979Arg
XM_011525336.1:c.2876A>G XP_011523638.1:p.Lys959Arg
XM_011525336.2:c.2876A>G XP_011523638.1:p.Lys959Arg
XM_011525337.1:c.2795A>G XP_011523639.1:p.Lys932Arg
XM_011525337.2:c.2795A>G XP_011523639.1:p.Lys932Arg
XM_011525338.1:c.2513A>G XP_011523640.1:p.Lys838Arg
XM_011525338.2:c.2513A>G XP_011523640.1:p.Lys838Arg
XM_017025200.1:c.2453A>G XP_016880689.1:p.Lys818Arg
XM_017025201.1:c.2453A>G XP_016880690.1:p.Lys818Arg
XM_017025202.1:c.1082A>G XP_016880691.1:p.Lys361Arg
XM_017025203.1:c.1082A>G XP_016880692.1:p.Lys361Arg