Canonical Allele Identifier: CA400478516

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144073718
• MyVariant Identifiers: chr17:g.59760907G>A (hg19) ; chr17:g.61683546G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683546G>A , CM000679.2:g.61683546G>A	GRCh38
NC_000017.10:g.59760907G>A , CM000679.1:g.59760907G>A	GRCh37
NC_000017.9:g.57115689G>A	NCBI36
NG_007409.2:g.185014C>T , LRG_300:g.185014C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2240C>T
ENST00000682453.1:c.3500C>T	ENSP00000506943.1:p.Ala1167Val
ENST00000682477.1:c.*2926C>T	ENSP00000507075.1:n.*2926C>T
ENST00000682589.1:n.9377C>T
ENST00000682755.1:c.3278C>T	ENSP00000507660.1:p.Ala1093Val
ENST00000682989.1:c.*591C>T	ENSP00000507786.1:n.*591C>T
ENST00000683039.1:c.3500C>T	ENSP00000508303.1:p.Ala1167Val
ENST00000683235.1:c.*915C>T	ENSP00000507646.1:n.*915C>T
ENST00000683535.1:n.1630C>T
ENST00000684584.1:c.2663C>T	ENSP00000508044.1:p.Ala888Val
ENST00000684626.1:n.1746C>T
ENST00000684769.1:c.1690C>T	ENSP00000507691.1:n.1690C>T
ENST00000259008.7:c.3500C>T MANE Select	ENSP00000259008.2:p.Ala1167Val
ENST00000259008.6:c.3500C>T	ENSP00000259008.2:p.Ala1167Val
NM_032043.2:c.3500C>T , LRG_300t1:c.3500C>T	NP_114432.2:p.Ala1167Val
XM_011525332.1:c.3560C>T	XP_011523634.1:p.Ala1187Val
XM_011525333.1:c.3560C>T	XP_011523635.1:p.Ala1187Val
XM_011525334.1:c.3560C>T	XP_011523636.1:p.Ala1187Val
XM_011525335.1:c.3500C>T	XP_011523637.1:p.Ala1167Val
XM_011525336.1:c.3440C>T	XP_011523638.1:p.Ala1147Val
XM_011525337.1:c.3359C>T	XP_011523639.1:p.Ala1120Val
XM_011525338.1:c.3077C>T	XP_011523640.1:p.Ala1026Val
XM_011525332.3:c.3560C>T	XP_011523634.1:p.Ala1187Val
XM_011525333.3:c.3560C>T	XP_011523635.1:p.Ala1187Val
XM_011525334.2:c.3560C>T	XP_011523636.1:p.Ala1187Val
XM_011525335.3:c.3500C>T	XP_011523637.1:p.Ala1167Val
XM_011525336.2:c.3440C>T	XP_011523638.1:p.Ala1147Val
XM_011525337.2:c.3359C>T	XP_011523639.1:p.Ala1120Val
XM_011525338.2:c.3077C>T	XP_011523640.1:p.Ala1026Val
XM_017025200.1:c.3017C>T	XP_016880689.1:p.Ala1006Val
XM_017025201.1:c.3017C>T	XP_016880690.1:p.Ala1006Val
XM_017025202.1:c.1646C>T	XP_016880691.1:p.Ala549Val
XM_017025203.1:c.1646C>T	XP_016880692.1:p.Ala549Val
NM_032043.3:c.3500C>T MANE Select	NP_114432.2:p.Ala1167Val