Canonical Allele Identifier: CA349030

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 219482
• ClinVar RCV Id: RCV000204843 ; RCV000775407
• dbSNP Id: rs864622113
• MyVariant Identifiers: chr17:g.59761180G>A (hg19) ; chr17:g.61683819G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683819G>A , CM000679.2:g.61683819G>A	GRCh38
NC_000017.10:g.59761180G>A , CM000679.1:g.59761180G>A	GRCh37
NC_000017.9:g.57115962G>A	NCBI36
NG_007409.2:g.184741C>T , LRG_300:g.184741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1967C>T
ENST00000682453.1:c.3227C>T	ENSP00000506943.1:p.Ser1076Leu
ENST00000682477.1:c.*2653C>T	ENSP00000507075.1:n.*2653C>T
ENST00000682589.1:n.9104C>T
ENST00000682755.1:c.3005C>T	ENSP00000507660.1:p.Ser1002Leu
ENST00000682989.1:c.*318C>T	ENSP00000507786.1:n.*318C>T
ENST00000683039.1:c.3227C>T	ENSP00000508303.1:p.Ser1076Leu
ENST00000683235.1:c.*642C>T	ENSP00000507646.1:n.*642C>T
ENST00000683535.1:n.1357C>T
ENST00000684584.1:c.2390C>T	ENSP00000508044.1:p.Ser797Leu
ENST00000684626.1:n.1473C>T
ENST00000684769.1:c.1417C>T	ENSP00000507691.1:n.1417C>T
ENST00000259008.7:c.3227C>T MANE Select	ENSP00000259008.2:p.Ser1076Leu
ENST00000259008.6:c.3227C>T	ENSP00000259008.2:p.Ser1076Leu
NM_032043.2:c.3227C>T , LRG_300t1:c.3227C>T	NP_114432.2:p.Ser1076Leu
XM_011525332.1:c.3287C>T	XP_011523634.1:p.Ser1096Leu
XM_011525333.1:c.3287C>T	XP_011523635.1:p.Ser1096Leu
XM_011525334.1:c.3287C>T	XP_011523636.1:p.Ser1096Leu
XM_011525335.1:c.3227C>T	XP_011523637.1:p.Ser1076Leu
XM_011525336.1:c.3167C>T	XP_011523638.1:p.Ser1056Leu
XM_011525337.1:c.3086C>T	XP_011523639.1:p.Ser1029Leu
XM_011525338.1:c.2804C>T	XP_011523640.1:p.Ser935Leu
XM_011525332.3:c.3287C>T	XP_011523634.1:p.Ser1096Leu
XM_011525333.3:c.3287C>T	XP_011523635.1:p.Ser1096Leu
XM_011525334.2:c.3287C>T	XP_011523636.1:p.Ser1096Leu
XM_011525335.3:c.3227C>T	XP_011523637.1:p.Ser1076Leu
XM_011525336.2:c.3167C>T	XP_011523638.1:p.Ser1056Leu
XM_011525337.2:c.3086C>T	XP_011523639.1:p.Ser1029Leu
XM_011525338.2:c.2804C>T	XP_011523640.1:p.Ser935Leu
XM_017025200.1:c.2744C>T	XP_016880689.1:p.Ser915Leu
XM_017025201.1:c.2744C>T	XP_016880690.1:p.Ser915Leu
XM_017025202.1:c.1373C>T	XP_016880691.1:p.Ser458Leu
XM_017025203.1:c.1373C>T	XP_016880692.1:p.Ser458Leu
NM_032043.3:c.3227C>T MANE Select	NP_114432.2:p.Ser1076Leu