Canonical Allele Identifier: CA400477809

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683352T>C , CM000679.2:g.61683352T>C	GRCh38
NC_000017.10:g.59760713T>C , CM000679.1:g.59760713T>C	GRCh37
NC_000017.9:g.57115495T>C	NCBI36
NG_007409.2:g.185208A>G , LRG_300:g.185208A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2434A>G
ENST00000682453.1:c.3694A>G	ENSP00000506943.1:p.Lys1232Glu
ENST00000682477.1:c.*3120A>G	ENSP00000507075.1:n.*3120A>G
ENST00000682589.1:n.9571A>G
ENST00000682755.1:c.3472A>G	ENSP00000507660.1:p.Lys1158Glu
ENST00000682989.1:c.*785A>G	ENSP00000507786.1:n.*785A>G
ENST00000683039.1:c.3694A>G	ENSP00000508303.1:p.Lys1232Glu
ENST00000683235.1:c.*1109A>G	ENSP00000507646.1:n.*1109A>G
ENST00000683535.1:n.1824A>G
ENST00000684584.1:c.2857A>G	ENSP00000508044.1:p.Lys953Glu
ENST00000684626.1:n.1940A>G
ENST00000684769.1:c.1884A>G	ENSP00000507691.1:n.1884A>G
ENST00000259008.7:c.3694A>G MANE Select	ENSP00000259008.2:p.Lys1232Glu
ENST00000259008.6:c.3694A>G	ENSP00000259008.2:p.Lys1232Glu
NM_032043.2:c.3694A>G , LRG_300t1:c.3694A>G	NP_114432.2:p.Lys1232Glu
XM_011525332.1:c.3754A>G	XP_011523634.1:p.Lys1252Glu
XM_011525333.1:c.3754A>G	XP_011523635.1:p.Lys1252Glu
XM_011525334.1:c.3754A>G	XP_011523636.1:p.Lys1252Glu
XM_011525335.1:c.3694A>G	XP_011523637.1:p.Lys1232Glu
XM_011525336.1:c.3634A>G	XP_011523638.1:p.Lys1212Glu
XM_011525337.1:c.3553A>G	XP_011523639.1:p.Lys1185Glu
XM_011525338.1:c.3271A>G	XP_011523640.1:p.Lys1091Glu
XM_011525332.3:c.3754A>G	XP_011523634.1:p.Lys1252Glu
XM_011525333.3:c.3754A>G	XP_011523635.1:p.Lys1252Glu
XM_011525334.2:c.3754A>G	XP_011523636.1:p.Lys1252Glu
XM_011525335.3:c.3694A>G	XP_011523637.1:p.Lys1232Glu
XM_011525336.2:c.3634A>G	XP_011523638.1:p.Lys1212Glu
XM_011525337.2:c.3553A>G	XP_011523639.1:p.Lys1185Glu
XM_011525338.2:c.3271A>G	XP_011523640.1:p.Lys1091Glu
XM_017025200.1:c.3211A>G	XP_016880689.1:p.Lys1071Glu
XM_017025201.1:c.3211A>G	XP_016880690.1:p.Lys1071Glu
XM_017025202.1:c.1840A>G	XP_016880691.1:p.Lys614Glu
XM_017025203.1:c.1840A>G	XP_016880692.1:p.Lys614Glu
NM_032043.3:c.3694A>G MANE Select	NP_114432.2:p.Lys1232Glu