Canonical Allele Identifier: CA335902
Community Standard Title: NM_032043.3(BRIP1):c.3080A>C (p.Glu1027Ala)
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683966T>G , CM000679.2:g.61683966T>G GRCh38
NC_000017.10:g.59761327T>G , CM000679.1:g.59761327T>G GRCh37
NC_000017.9:g.57116109T>G NCBI36
NG_007409.2:g.184594A>C , LRG_300:g.184594A>C

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.3080A>C MANE Select NP_114432.2:p.Glu1027Ala
ENST00000259008.7:c.3080A>C MANE Select ENSP00000259008.2:p.Glu1027Ala
NM_032043.2:c.3080A>C , LRG_300t1:c.3080A>C NP_114432.2:p.Glu1027Ala
ENST00000259008.6:c.3080A>C ENSP00000259008.2:p.Glu1027Ala
ENST00000682073.1:n.1820A>C
ENST00000682453.1:c.3080A>C ENSP00000506943.1:p.Glu1027Ala
ENST00000682477.1:c.*2506A>C ENSP00000507075.1:n.*2506A>C
ENST00000682589.1:n.8957A>C
ENST00000682755.1:c.2858A>C ENSP00000507660.1:p.Glu953Ala
ENST00000682989.1:c.*171A>C ENSP00000507786.1:n.*171A>C
ENST00000683039.1:c.3080A>C ENSP00000508303.1:p.Glu1027Ala
ENST00000683235.1:c.*495A>C ENSP00000507646.1:n.*495A>C
ENST00000683535.1:n.1210A>C
ENST00000684584.1:c.2243A>C ENSP00000508044.1:p.Glu748Ala
ENST00000684626.1:n.1326A>C
ENST00000684769.1:c.1270A>C ENSP00000507691.1:n.1270A>C
XM_011525332.1:c.3140A>C XP_011523634.1:p.Glu1047Ala
XM_011525332.3:c.3140A>C XP_011523634.1:p.Glu1047Ala
XM_011525333.1:c.3140A>C XP_011523635.1:p.Glu1047Ala
XM_011525333.3:c.3140A>C XP_011523635.1:p.Glu1047Ala
XM_011525334.1:c.3140A>C XP_011523636.1:p.Glu1047Ala
XM_011525334.2:c.3140A>C XP_011523636.1:p.Glu1047Ala
XM_011525335.1:c.3080A>C XP_011523637.1:p.Glu1027Ala
XM_011525335.3:c.3080A>C XP_011523637.1:p.Glu1027Ala
XM_011525336.1:c.3020A>C XP_011523638.1:p.Glu1007Ala
XM_011525336.2:c.3020A>C XP_011523638.1:p.Glu1007Ala
XM_011525337.1:c.2939A>C XP_011523639.1:p.Glu980Ala
XM_011525337.2:c.2939A>C XP_011523639.1:p.Glu980Ala
XM_011525338.1:c.2657A>C XP_011523640.1:p.Glu886Ala
XM_011525338.2:c.2657A>C XP_011523640.1:p.Glu886Ala
XM_017025200.1:c.2597A>C XP_016880689.1:p.Glu866Ala
XM_017025201.1:c.2597A>C XP_016880690.1:p.Glu866Ala
XM_017025202.1:c.1226A>C XP_016880691.1:p.Glu409Ala
XM_017025203.1:c.1226A>C XP_016880692.1:p.Glu409Ala