Canonical Allele Identifier: CA400479418

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144379255
• MyVariant Identifiers: chr17:g.59793322C>T (hg19) ; chr17:g.61715961C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61715961C>T , CM000679.2:g.61715961C>T	GRCh38
NC_000017.10:g.59793322C>T , CM000679.1:g.59793322C>T	GRCh37
NC_000017.9:g.57148104C>T	NCBI36
NG_007409.2:g.152599G>A , LRG_300:g.152599G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2612G>A	ENSP00000507191.1:n.2612G>A
ENST00000682073.1:n.1222G>A
ENST00000682433.1:n.1561G>A
ENST00000682453.1:c.2482G>A	ENSP00000506943.1:p.Ala828Thr
ENST00000682477.1:c.*1908G>A	ENSP00000507075.1:n.*1908G>A
ENST00000682589.1:n.8359G>A
ENST00000682755.1:c.2260G>A	ENSP00000507660.1:p.Ala754Thr
ENST00000682989.1:c.2482G>A	ENSP00000507786.1:p.Ala828Thr
ENST00000683039.1:c.2482G>A	ENSP00000508303.1:p.Ala828Thr
ENST00000683235.1:c.2482G>A	ENSP00000507646.1:p.Ala828Thr
ENST00000683535.1:n.612G>A
ENST00000684471.1:n.895G>A
ENST00000684584.1:c.1975G>A	ENSP00000508044.1:p.Ala659Thr
ENST00000684626.1:n.811G>A
ENST00000684769.1:c.547G>A	ENSP00000507691.1:p.Ala183Thr
ENST00000259008.7:c.2482G>A MANE Select	ENSP00000259008.2:p.Ala828Thr
ENST00000259008.6:c.2482G>A	ENSP00000259008.2:p.Ala828Thr
ENST00000577598.5:c.2482G>A	ENSP00000464654.1:p.Ala828Thr
NM_032043.2:c.2482G>A , LRG_300t1:c.2482G>A	NP_114432.2:p.Ala828Thr
XM_011525332.1:c.2542G>A	XP_011523634.1:p.Ala848Thr
XM_011525333.1:c.2542G>A	XP_011523635.1:p.Ala848Thr
XM_011525334.1:c.2542G>A	XP_011523636.1:p.Ala848Thr
XM_011525335.1:c.2482G>A	XP_011523637.1:p.Ala828Thr
XM_011525336.1:c.2422G>A	XP_011523638.1:p.Ala808Thr
XM_011525337.1:c.2341G>A	XP_011523639.1:p.Ala781Thr
XM_011525338.1:c.2059G>A	XP_011523640.1:p.Ala687Thr
XM_011525340.1:c.2542G>A	XP_011523642.1:p.Ala848Thr
XM_011525332.3:c.2542G>A	XP_011523634.1:p.Ala848Thr
XM_011525333.3:c.2542G>A	XP_011523635.1:p.Ala848Thr
XM_011525334.2:c.2542G>A	XP_011523636.1:p.Ala848Thr
XM_011525335.3:c.2482G>A	XP_011523637.1:p.Ala828Thr
XM_011525336.2:c.2422G>A	XP_011523638.1:p.Ala808Thr
XM_011525337.2:c.2341G>A	XP_011523639.1:p.Ala781Thr
XM_011525338.2:c.2059G>A	XP_011523640.1:p.Ala687Thr
XM_011525340.3:c.2542G>A	XP_011523642.1:p.Ala848Thr
XM_017025200.1:c.1999G>A	XP_016880689.1:p.Ala667Thr
XM_017025201.1:c.1999G>A	XP_016880690.1:p.Ala667Thr
XM_017025202.1:c.628G>A	XP_016880691.1:p.Ala210Thr
XM_017025203.1:c.628G>A	XP_016880692.1:p.Ala210Thr
NM_032043.3:c.2482G>A MANE Select	NP_114432.2:p.Ala828Thr