Canonical Allele Identifier: CA400479546

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683897G>C , CM000679.2:g.61683897G>C	GRCh38
NC_000017.10:g.59761258G>C , CM000679.1:g.59761258G>C	GRCh37
NC_000017.9:g.57116040G>C	NCBI36
NG_007409.2:g.184663C>G , LRG_300:g.184663C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1889C>G
ENST00000682453.1:c.3149C>G	ENSP00000506943.1:p.Thr1050Ser
ENST00000682477.1:c.*2575C>G	ENSP00000507075.1:n.*2575C>G
ENST00000682589.1:n.9026C>G
ENST00000682755.1:c.2927C>G	ENSP00000507660.1:p.Thr976Ser
ENST00000682989.1:c.*240C>G	ENSP00000507786.1:n.*240C>G
ENST00000683039.1:c.3149C>G	ENSP00000508303.1:p.Thr1050Ser
ENST00000683235.1:c.*564C>G	ENSP00000507646.1:n.*564C>G
ENST00000683535.1:n.1279C>G
ENST00000684584.1:c.2312C>G	ENSP00000508044.1:p.Thr771Ser
ENST00000684626.1:n.1395C>G
ENST00000684769.1:c.1339C>G	ENSP00000507691.1:n.1339C>G
ENST00000259008.7:c.3149C>G MANE Select	ENSP00000259008.2:p.Thr1050Ser
ENST00000259008.6:c.3149C>G	ENSP00000259008.2:p.Thr1050Ser
NM_032043.2:c.3149C>G , LRG_300t1:c.3149C>G	NP_114432.2:p.Thr1050Ser
XM_011525332.1:c.3209C>G	XP_011523634.1:p.Thr1070Ser
XM_011525333.1:c.3209C>G	XP_011523635.1:p.Thr1070Ser
XM_011525334.1:c.3209C>G	XP_011523636.1:p.Thr1070Ser
XM_011525335.1:c.3149C>G	XP_011523637.1:p.Thr1050Ser
XM_011525336.1:c.3089C>G	XP_011523638.1:p.Thr1030Ser
XM_011525337.1:c.3008C>G	XP_011523639.1:p.Thr1003Ser
XM_011525338.1:c.2726C>G	XP_011523640.1:p.Thr909Ser
XM_011525332.3:c.3209C>G	XP_011523634.1:p.Thr1070Ser
XM_011525333.3:c.3209C>G	XP_011523635.1:p.Thr1070Ser
XM_011525334.2:c.3209C>G	XP_011523636.1:p.Thr1070Ser
XM_011525335.3:c.3149C>G	XP_011523637.1:p.Thr1050Ser
XM_011525336.2:c.3089C>G	XP_011523638.1:p.Thr1030Ser
XM_011525337.2:c.3008C>G	XP_011523639.1:p.Thr1003Ser
XM_011525338.2:c.2726C>G	XP_011523640.1:p.Thr909Ser
XM_017025200.1:c.2666C>G	XP_016880689.1:p.Thr889Ser
XM_017025201.1:c.2666C>G	XP_016880690.1:p.Thr889Ser
XM_017025202.1:c.1295C>G	XP_016880691.1:p.Thr432Ser
XM_017025203.1:c.1295C>G	XP_016880692.1:p.Thr432Ser
NM_032043.3:c.3149C>G MANE Select	NP_114432.2:p.Thr1050Ser