Canonical Allele Identifier: CA400482907

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61744460A>C , CM000679.2:g.61744460A>C	GRCh38
NC_000017.10:g.59821821A>C , CM000679.1:g.59821821A>C	GRCh37
NC_000017.9:g.57176603A>C	NCBI36
NG_007409.2:g.124100T>G , LRG_300:g.124100T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2229T>G MANE Select	NP_114432.2:p.Tyr743Ter
ENST00000259008.7:c.2229T>G MANE Select	ENSP00000259008.2:p.Tyr743Ter
NM_032043.2:c.2229T>G , LRG_300t1:c.2229T>G	NP_114432.2:p.Tyr743Ter
ENST00000259008.6:c.2229T>G	ENSP00000259008.2:p.Tyr743Ter
ENST00000577598.5:c.2229T>G	ENSP00000464654.1:p.Tyr743Ter
ENST00000579028.2:c.1811T>G	ENSP00000463827.2:n.1811T>G
ENST00000584322.1:c.212T>G
ENST00000584322.2:c.2229T>G	ENSP00000463272.2:p.Tyr743Ter
ENST00000682066.1:c.2359T>G	ENSP00000507191.1:n.2359T>G
ENST00000682073.1:n.969T>G
ENST00000682433.1:n.1308T>G
ENST00000682453.1:c.2229T>G	ENSP00000506943.1:p.Tyr743Ter
ENST00000682477.1:c.*1655T>G	ENSP00000507075.1:n.*1655T>G
ENST00000682589.1:n.8106T>G
ENST00000682755.1:c.2007T>G	ENSP00000507660.1:p.Tyr669Ter
ENST00000682989.1:c.2229T>G	ENSP00000507786.1:p.Tyr743Ter
ENST00000683039.1:c.2229T>G	ENSP00000508303.1:p.Tyr743Ter
ENST00000683235.1:c.2229T>G	ENSP00000507646.1:p.Tyr743Ter
ENST00000683381.1:c.2289T>G	ENSP00000508184.1:p.Tyr763Ter
ENST00000683535.1:n.359T>G
ENST00000684471.1:n.642T>G
ENST00000684584.1:c.1722T>G	ENSP00000508044.1:p.Tyr574Ter
ENST00000684769.1:c.294T>G	ENSP00000507691.1:p.Tyr98Ter
XM_011525332.1:c.2289T>G	XP_011523634.1:p.Tyr763Ter
XM_011525332.3:c.2289T>G	XP_011523634.1:p.Tyr763Ter
XM_011525333.1:c.2289T>G	XP_011523635.1:p.Tyr763Ter
XM_011525333.3:c.2289T>G	XP_011523635.1:p.Tyr763Ter
XM_011525334.1:c.2289T>G	XP_011523636.1:p.Tyr763Ter
XM_011525334.2:c.2289T>G	XP_011523636.1:p.Tyr763Ter
XM_011525335.1:c.2229T>G	XP_011523637.1:p.Tyr743Ter
XM_011525335.3:c.2229T>G	XP_011523637.1:p.Tyr743Ter
XM_011525336.1:c.2169T>G	XP_011523638.1:p.Tyr723Ter
XM_011525336.2:c.2169T>G	XP_011523638.1:p.Tyr723Ter
XM_011525337.1:c.2088T>G	XP_011523639.1:p.Tyr696Ter
XM_011525337.2:c.2088T>G	XP_011523639.1:p.Tyr696Ter
XM_011525338.1:c.1806T>G	XP_011523640.1:p.Tyr602Ter
XM_011525338.2:c.1806T>G	XP_011523640.1:p.Tyr602Ter
XM_011525339.1:c.2289T>G	XP_011523641.1:p.Tyr763Ter
XM_011525339.3:c.2289T>G	XP_011523641.1:p.Tyr763Ter
XM_011525340.1:c.2289T>G	XP_011523642.1:p.Tyr763Ter
XM_011525340.3:c.2289T>G	XP_011523642.1:p.Tyr763Ter
XM_017025200.1:c.1746T>G	XP_016880689.1:p.Tyr582Ter
XM_017025201.1:c.1746T>G	XP_016880690.1:p.Tyr582Ter
XM_017025202.1:c.375T>G	XP_016880691.1:p.Tyr125Ter
XM_017025203.1:c.375T>G	XP_016880692.1:p.Tyr125Ter