Canonical Allele Identifier: CA400482648

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743077G>A , CM000679.2:g.61743077G>A	GRCh38
NC_000017.10:g.59820438G>A , CM000679.1:g.59820438G>A	GRCh37
NC_000017.9:g.57175220G>A	NCBI36
NG_007409.2:g.125483C>T , LRG_300:g.125483C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2315C>T	ENSP00000463272.2:p.Ser772Leu
ENST00000682066.1:c.2445C>T	ENSP00000507191.1:n.2445C>T
ENST00000682073.1:n.1055C>T
ENST00000682433.1:n.1394C>T
ENST00000682453.1:c.2315C>T	ENSP00000506943.1:p.Ser772Leu
ENST00000682477.1:c.*1741C>T	ENSP00000507075.1:n.*1741C>T
ENST00000682589.1:n.8192C>T
ENST00000682755.1:c.2093C>T	ENSP00000507660.1:p.Ser698Leu
ENST00000682989.1:c.2315C>T	ENSP00000507786.1:p.Ser772Leu
ENST00000683039.1:c.2315C>T	ENSP00000508303.1:p.Ser772Leu
ENST00000683235.1:c.2315C>T	ENSP00000507646.1:p.Ser772Leu
ENST00000683381.1:c.2375C>T	ENSP00000508184.1:p.Ser792Leu
ENST00000683535.1:n.445C>T
ENST00000684471.1:n.728C>T
ENST00000684584.1:c.1808C>T	ENSP00000508044.1:p.Ser603Leu
ENST00000684769.1:c.380C>T	ENSP00000507691.1:p.Ser127Leu
ENST00000259008.7:c.2315C>T MANE Select	ENSP00000259008.2:p.Ser772Leu
ENST00000259008.6:c.2315C>T	ENSP00000259008.2:p.Ser772Leu
ENST00000577598.5:c.2315C>T	ENSP00000464654.1:p.Ser772Leu
ENST00000584322.1:c.298C>T
NM_032043.2:c.2315C>T , LRG_300t1:c.2315C>T	NP_114432.2:p.Ser772Leu
XM_011525332.1:c.2375C>T	XP_011523634.1:p.Ser792Leu
XM_011525333.1:c.2375C>T	XP_011523635.1:p.Ser792Leu
XM_011525334.1:c.2375C>T	XP_011523636.1:p.Ser792Leu
XM_011525335.1:c.2315C>T	XP_011523637.1:p.Ser772Leu
XM_011525336.1:c.2255C>T	XP_011523638.1:p.Ser752Leu
XM_011525337.1:c.2174C>T	XP_011523639.1:p.Ser725Leu
XM_011525338.1:c.1892C>T	XP_011523640.1:p.Ser631Leu
XM_011525339.1:c.2375C>T	XP_011523641.1:p.Ser792Leu
XM_011525340.1:c.2375C>T	XP_011523642.1:p.Ser792Leu
XR_934894.1:n.524-1104G>A
XM_011525332.3:c.2375C>T	XP_011523634.1:p.Ser792Leu
XM_011525333.3:c.2375C>T	XP_011523635.1:p.Ser792Leu
XM_011525334.2:c.2375C>T	XP_011523636.1:p.Ser792Leu
XM_011525335.3:c.2315C>T	XP_011523637.1:p.Ser772Leu
XM_011525336.2:c.2255C>T	XP_011523638.1:p.Ser752Leu
XM_011525337.2:c.2174C>T	XP_011523639.1:p.Ser725Leu
XM_011525338.2:c.1892C>T	XP_011523640.1:p.Ser631Leu
XM_011525339.3:c.2375C>T	XP_011523641.1:p.Ser792Leu
XM_011525340.3:c.2375C>T	XP_011523642.1:p.Ser792Leu
XM_017025200.1:c.1832C>T	XP_016880689.1:p.Ser611Leu
XM_017025201.1:c.1832C>T	XP_016880690.1:p.Ser611Leu
XM_017025202.1:c.461C>T	XP_016880691.1:p.Ser154Leu
XM_017025203.1:c.461C>T	XP_016880692.1:p.Ser154Leu
NM_032043.3:c.2315C>T MANE Select	NP_114432.2:p.Ser772Leu