Canonical Allele Identifier: CA400482385

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61693453T>C , CM000679.2:g.61693453T>C	GRCh38
NC_000017.10:g.59770814T>C , CM000679.1:g.59770814T>C	GRCh37
NC_000017.9:g.57125596T>C	NCBI36
NG_007409.2:g.175107A>G , LRG_300:g.175107A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2552A>G MANE Select	NP_114432.2:p.Asn851Ser
ENST00000259008.7:c.2552A>G MANE Select	ENSP00000259008.2:p.Asn851Ser
NM_032043.2:c.2552A>G , LRG_300t1:c.2552A>G	NP_114432.2:p.Asn851Ser
ENST00000259008.6:c.2552A>G	ENSP00000259008.2:p.Asn851Ser
ENST00000577598.5:c.2552A>G	ENSP00000464654.1:p.Asn851Ser
ENST00000682066.1:c.2682A>G	ENSP00000507191.1:n.2682A>G
ENST00000682073.1:n.1292A>G
ENST00000682433.1:n.1631A>G
ENST00000682453.1:c.2552A>G	ENSP00000506943.1:p.Asn851Ser
ENST00000682477.1:c.*1978A>G	ENSP00000507075.1:n.*1978A>G
ENST00000682589.1:n.8429A>G
ENST00000682755.1:c.2330A>G	ENSP00000507660.1:p.Asn777Ser
ENST00000682989.1:c.2493-4981A>G	ENSP00000507786.1:n.2493-4981A>G
ENST00000683039.1:c.2552A>G	ENSP00000508303.1:p.Asn851Ser
ENST00000683235.1:c.2493-7288A>G	ENSP00000507646.1:n.2493-7288A>G
ENST00000683535.1:n.682A>G
ENST00000684471.1:n.965A>G
ENST00000684584.1:c.2045A>G	ENSP00000508044.1:p.Asn682Ser
ENST00000684626.1:n.822-7288A>G
ENST00000684769.1:c.617A>G	ENSP00000507691.1:p.Asn206Ser
XM_011525332.1:c.2612A>G	XP_011523634.1:p.Asn871Ser
XM_011525332.3:c.2612A>G	XP_011523634.1:p.Asn871Ser
XM_011525333.1:c.2612A>G	XP_011523635.1:p.Asn871Ser
XM_011525333.3:c.2612A>G	XP_011523635.1:p.Asn871Ser
XM_011525334.1:c.2612A>G	XP_011523636.1:p.Asn871Ser
XM_011525334.2:c.2612A>G	XP_011523636.1:p.Asn871Ser
XM_011525335.1:c.2552A>G	XP_011523637.1:p.Asn851Ser
XM_011525335.3:c.2552A>G	XP_011523637.1:p.Asn851Ser
XM_011525336.1:c.2492A>G	XP_011523638.1:p.Asn831Ser
XM_011525336.2:c.2492A>G	XP_011523638.1:p.Asn831Ser
XM_011525337.1:c.2411A>G	XP_011523639.1:p.Asn804Ser
XM_011525337.2:c.2411A>G	XP_011523639.1:p.Asn804Ser
XM_011525338.1:c.2129A>G	XP_011523640.1:p.Asn710Ser
XM_011525338.2:c.2129A>G	XP_011523640.1:p.Asn710Ser
XM_011525340.1:c.2553-7288A>G	XP_011523642.1:n.2553-7288A>G
XM_011525340.3:c.2553-7288A>G	XP_011523642.1:n.2553-7288A>G
XM_017025200.1:c.2069A>G	XP_016880689.1:p.Asn690Ser
XM_017025201.1:c.2069A>G	XP_016880690.1:p.Asn690Ser
XM_017025202.1:c.698A>G	XP_016880691.1:p.Asn233Ser
XM_017025203.1:c.698A>G	XP_016880692.1:p.Asn233Ser