Canonical Allele Identifier: CA400478950

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144079633
• MyVariant Identifiers: chr17:g.59761069T>A (hg19) ; chr17:g.61683708T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683708T>A , CM000679.2:g.61683708T>A	GRCh38
NC_000017.10:g.59761069T>A , CM000679.1:g.59761069T>A	GRCh37
NC_000017.9:g.57115851T>A	NCBI36
NG_007409.2:g.184852A>T , LRG_300:g.184852A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2078A>T
ENST00000682453.1:c.3338A>T	ENSP00000506943.1:p.Lys1113Ile
ENST00000682477.1:c.*2764A>T	ENSP00000507075.1:n.*2764A>T
ENST00000682589.1:n.9215A>T
ENST00000682755.1:c.3116A>T	ENSP00000507660.1:p.Lys1039Ile
ENST00000682989.1:c.*429A>T	ENSP00000507786.1:n.*429A>T
ENST00000683039.1:c.3338A>T	ENSP00000508303.1:p.Lys1113Ile
ENST00000683235.1:c.*753A>T	ENSP00000507646.1:n.*753A>T
ENST00000683535.1:n.1468A>T
ENST00000684584.1:c.2501A>T	ENSP00000508044.1:p.Lys834Ile
ENST00000684626.1:n.1584A>T
ENST00000684769.1:c.1528A>T	ENSP00000507691.1:n.1528A>T
ENST00000259008.7:c.3338A>T MANE Select	ENSP00000259008.2:p.Lys1113Ile
ENST00000259008.6:c.3338A>T	ENSP00000259008.2:p.Lys1113Ile
NM_032043.2:c.3338A>T , LRG_300t1:c.3338A>T	NP_114432.2:p.Lys1113Ile
XM_011525332.1:c.3398A>T	XP_011523634.1:p.Lys1133Ile
XM_011525333.1:c.3398A>T	XP_011523635.1:p.Lys1133Ile
XM_011525334.1:c.3398A>T	XP_011523636.1:p.Lys1133Ile
XM_011525335.1:c.3338A>T	XP_011523637.1:p.Lys1113Ile
XM_011525336.1:c.3278A>T	XP_011523638.1:p.Lys1093Ile
XM_011525337.1:c.3197A>T	XP_011523639.1:p.Lys1066Ile
XM_011525338.1:c.2915A>T	XP_011523640.1:p.Lys972Ile
XM_011525332.3:c.3398A>T	XP_011523634.1:p.Lys1133Ile
XM_011525333.3:c.3398A>T	XP_011523635.1:p.Lys1133Ile
XM_011525334.2:c.3398A>T	XP_011523636.1:p.Lys1133Ile
XM_011525335.3:c.3338A>T	XP_011523637.1:p.Lys1113Ile
XM_011525336.2:c.3278A>T	XP_011523638.1:p.Lys1093Ile
XM_011525337.2:c.3197A>T	XP_011523639.1:p.Lys1066Ile
XM_011525338.2:c.2915A>T	XP_011523640.1:p.Lys972Ile
XM_017025200.1:c.2855A>T	XP_016880689.1:p.Lys952Ile
XM_017025201.1:c.2855A>T	XP_016880690.1:p.Lys952Ile
XM_017025202.1:c.1484A>T	XP_016880691.1:p.Lys495Ile
XM_017025203.1:c.1484A>T	XP_016880692.1:p.Lys495Ile
NM_032043.3:c.3338A>T MANE Select	NP_114432.2:p.Lys1113Ile