Canonical Allele Identifier: CA289737

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743082A>G , CM000679.2:g.61743082A>G	GRCh38
NC_000017.10:g.59820443A>G , CM000679.1:g.59820443A>G	GRCh37
NC_000017.9:g.57175225A>G	NCBI36
NG_007409.2:g.125478T>C , LRG_300:g.125478T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2310T>C MANE Select	NP_114432.2:p.Asp770=
ENST00000259008.7:c.2310T>C MANE Select	ENSP00000259008.2:p.Asp770=
NM_032043.2:c.2310T>C , LRG_300t1:c.2310T>C	NP_114432.2:p.Asp770=
ENST00000259008.6:c.2310T>C	ENSP00000259008.2:p.Asp770=
ENST00000577598.5:c.2310T>C	ENSP00000464654.1:p.Asp770=
ENST00000584322.1:c.293T>C
ENST00000584322.2:c.2310T>C	ENSP00000463272.2:p.Asp770=
ENST00000682066.1:c.2440T>C	ENSP00000507191.1:n.2440T>C
ENST00000682073.1:n.1050T>C
ENST00000682433.1:n.1389T>C
ENST00000682453.1:c.2310T>C	ENSP00000506943.1:p.Asp770=
ENST00000682477.1:c.*1736T>C	ENSP00000507075.1:n.*1736T>C
ENST00000682589.1:n.8187T>C
ENST00000682755.1:c.2088T>C	ENSP00000507660.1:p.Asp696=
ENST00000682989.1:c.2310T>C	ENSP00000507786.1:p.Asp770=
ENST00000683039.1:c.2310T>C	ENSP00000508303.1:p.Asp770=
ENST00000683235.1:c.2310T>C	ENSP00000507646.1:p.Asp770=
ENST00000683381.1:c.2370T>C	ENSP00000508184.1:p.Asp790=
ENST00000683535.1:n.440T>C
ENST00000684471.1:n.723T>C
ENST00000684584.1:c.1803T>C	ENSP00000508044.1:p.Asp601=
ENST00000684769.1:c.375T>C	ENSP00000507691.1:p.Asp125=
XM_011525332.1:c.2370T>C	XP_011523634.1:p.Asp790=
XM_011525332.3:c.2370T>C	XP_011523634.1:p.Asp790=
XM_011525333.1:c.2370T>C	XP_011523635.1:p.Asp790=
XM_011525333.3:c.2370T>C	XP_011523635.1:p.Asp790=
XM_011525334.1:c.2370T>C	XP_011523636.1:p.Asp790=
XM_011525334.2:c.2370T>C	XP_011523636.1:p.Asp790=
XM_011525335.1:c.2310T>C	XP_011523637.1:p.Asp770=
XM_011525335.3:c.2310T>C	XP_011523637.1:p.Asp770=
XM_011525336.1:c.2250T>C	XP_011523638.1:p.Asp750=
XM_011525336.2:c.2250T>C	XP_011523638.1:p.Asp750=
XM_011525337.1:c.2169T>C	XP_011523639.1:p.Asp723=
XM_011525337.2:c.2169T>C	XP_011523639.1:p.Asp723=
XM_011525338.1:c.1887T>C	XP_011523640.1:p.Asp629=
XM_011525338.2:c.1887T>C	XP_011523640.1:p.Asp629=
XM_011525339.1:c.2370T>C	XP_011523641.1:p.Asp790=
XM_011525339.3:c.2370T>C	XP_011523641.1:p.Asp790=
XM_011525340.1:c.2370T>C	XP_011523642.1:p.Asp790=
XM_011525340.3:c.2370T>C	XP_011523642.1:p.Asp790=
XM_017025200.1:c.1827T>C	XP_016880689.1:p.Asp609=
XM_017025201.1:c.1827T>C	XP_016880690.1:p.Asp609=
XM_017025202.1:c.456T>C	XP_016880691.1:p.Asp152=
XM_017025203.1:c.456T>C	XP_016880692.1:p.Asp152=
XR_934894.1:n.524-1099A>G