Canonical Allele Identifier: CA400482924

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61744464T>G , CM000679.2:g.61744464T>G	GRCh38
NC_000017.10:g.59821825T>G , CM000679.1:g.59821825T>G	GRCh37
NC_000017.9:g.57176607T>G	NCBI36
NG_007409.2:g.124096A>C , LRG_300:g.124096A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2225A>C MANE Select	NP_114432.2:p.Tyr742Ser
ENST00000259008.7:c.2225A>C MANE Select	ENSP00000259008.2:p.Tyr742Ser
NM_032043.2:c.2225A>C , LRG_300t1:c.2225A>C	NP_114432.2:p.Tyr742Ser
ENST00000259008.6:c.2225A>C	ENSP00000259008.2:p.Tyr742Ser
ENST00000577598.5:c.2225A>C	ENSP00000464654.1:p.Tyr742Ser
ENST00000579028.2:c.1807A>C	ENSP00000463827.2:n.1807A>C
ENST00000584322.1:c.208A>C
ENST00000584322.2:c.2225A>C	ENSP00000463272.2:p.Tyr742Ser
ENST00000682066.1:c.2355A>C	ENSP00000507191.1:n.2355A>C
ENST00000682073.1:n.965A>C
ENST00000682433.1:n.1304A>C
ENST00000682453.1:c.2225A>C	ENSP00000506943.1:p.Tyr742Ser
ENST00000682477.1:c.*1651A>C	ENSP00000507075.1:n.*1651A>C
ENST00000682589.1:n.8102A>C
ENST00000682755.1:c.2003A>C	ENSP00000507660.1:p.Tyr668Ser
ENST00000682989.1:c.2225A>C	ENSP00000507786.1:p.Tyr742Ser
ENST00000683039.1:c.2225A>C	ENSP00000508303.1:p.Tyr742Ser
ENST00000683235.1:c.2225A>C	ENSP00000507646.1:p.Tyr742Ser
ENST00000683381.1:c.2285A>C	ENSP00000508184.1:p.Tyr762Ser
ENST00000683535.1:n.355A>C
ENST00000684471.1:n.638A>C
ENST00000684584.1:c.1718A>C	ENSP00000508044.1:p.Tyr573Ser
ENST00000684769.1:c.290A>C	ENSP00000507691.1:p.Tyr97Ser
XM_011525332.1:c.2285A>C	XP_011523634.1:p.Tyr762Ser
XM_011525332.3:c.2285A>C	XP_011523634.1:p.Tyr762Ser
XM_011525333.1:c.2285A>C	XP_011523635.1:p.Tyr762Ser
XM_011525333.3:c.2285A>C	XP_011523635.1:p.Tyr762Ser
XM_011525334.1:c.2285A>C	XP_011523636.1:p.Tyr762Ser
XM_011525334.2:c.2285A>C	XP_011523636.1:p.Tyr762Ser
XM_011525335.1:c.2225A>C	XP_011523637.1:p.Tyr742Ser
XM_011525335.3:c.2225A>C	XP_011523637.1:p.Tyr742Ser
XM_011525336.1:c.2165A>C	XP_011523638.1:p.Tyr722Ser
XM_011525336.2:c.2165A>C	XP_011523638.1:p.Tyr722Ser
XM_011525337.1:c.2084A>C	XP_011523639.1:p.Tyr695Ser
XM_011525337.2:c.2084A>C	XP_011523639.1:p.Tyr695Ser
XM_011525338.1:c.1802A>C	XP_011523640.1:p.Tyr601Ser
XM_011525338.2:c.1802A>C	XP_011523640.1:p.Tyr601Ser
XM_011525339.1:c.2285A>C	XP_011523641.1:p.Tyr762Ser
XM_011525339.3:c.2285A>C	XP_011523641.1:p.Tyr762Ser
XM_011525340.1:c.2285A>C	XP_011523642.1:p.Tyr762Ser
XM_011525340.3:c.2285A>C	XP_011523642.1:p.Tyr762Ser
XM_017025200.1:c.1742A>C	XP_016880689.1:p.Tyr581Ser
XM_017025201.1:c.1742A>C	XP_016880690.1:p.Tyr581Ser
XM_017025202.1:c.371A>C	XP_016880691.1:p.Tyr124Ser
XM_017025203.1:c.371A>C	XP_016880692.1:p.Tyr124Ser