Canonical Allele Identifier: CA197020

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685868A>T , CM000679.2:g.61685868A>T	GRCh38
NC_000017.10:g.59763229A>T , CM000679.1:g.59763229A>T	GRCh37
NC_000017.9:g.57118011A>T	NCBI36
NG_007409.2:g.182692T>A , LRG_300:g.182692T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2873T>A MANE Select	NP_114432.2:p.Leu958Gln
ENST00000259008.7:c.2873T>A MANE Select	ENSP00000259008.2:p.Leu958Gln
NM_032043.2:c.2873T>A , LRG_300t1:c.2873T>A	NP_114432.2:p.Leu958Gln
ENST00000259008.6:c.2873T>A	ENSP00000259008.2:p.Leu958Gln
ENST00000577598.5:c.2873T>A	ENSP00000464654.1:p.Leu958Gln
ENST00000682066.1:c.3003T>A	ENSP00000507191.1:n.3003T>A
ENST00000682073.1:n.1613T>A
ENST00000682433.1:n.1952T>A
ENST00000682453.1:c.2873T>A	ENSP00000506943.1:p.Leu958Gln
ENST00000682477.1:c.*2299T>A	ENSP00000507075.1:n.*2299T>A
ENST00000682589.1:n.8750T>A
ENST00000682755.1:c.2651T>A	ENSP00000507660.1:p.Leu884Gln
ENST00000682989.1:c.2610-1728T>A	ENSP00000507786.1:n.2610-1728T>A
ENST00000683039.1:c.2873T>A	ENSP00000508303.1:p.Leu958Gln
ENST00000683235.1:c.*288T>A	ENSP00000507646.1:n.*288T>A
ENST00000683535.1:n.1003T>A
ENST00000684471.1:n.1286T>A
ENST00000684584.1:c.2069-1728T>A	ENSP00000508044.1:n.2069-1728T>A
ENST00000684626.1:n.1119T>A
ENST00000684769.1:c.1063T>A	ENSP00000507691.1:n.1063T>A
XM_011525332.1:c.2933T>A	XP_011523634.1:p.Leu978Gln
XM_011525332.3:c.2933T>A	XP_011523634.1:p.Leu978Gln
XM_011525333.1:c.2933T>A	XP_011523635.1:p.Leu978Gln
XM_011525333.3:c.2933T>A	XP_011523635.1:p.Leu978Gln
XM_011525334.1:c.2933T>A	XP_011523636.1:p.Leu978Gln
XM_011525334.2:c.2933T>A	XP_011523636.1:p.Leu978Gln
XM_011525335.1:c.2873T>A	XP_011523637.1:p.Leu958Gln
XM_011525335.3:c.2873T>A	XP_011523637.1:p.Leu958Gln
XM_011525336.1:c.2813T>A	XP_011523638.1:p.Leu938Gln
XM_011525336.2:c.2813T>A	XP_011523638.1:p.Leu938Gln
XM_011525337.1:c.2732T>A	XP_011523639.1:p.Leu911Gln
XM_011525337.2:c.2732T>A	XP_011523639.1:p.Leu911Gln
XM_011525338.1:c.2450T>A	XP_011523640.1:p.Leu817Gln
XM_011525338.2:c.2450T>A	XP_011523640.1:p.Leu817Gln
XM_017025200.1:c.2390T>A	XP_016880689.1:p.Leu797Gln
XM_017025201.1:c.2390T>A	XP_016880690.1:p.Leu797Gln
XM_017025202.1:c.1019T>A	XP_016880691.1:p.Leu340Gln
XM_017025203.1:c.1019T>A	XP_016880692.1:p.Leu340Gln