Canonical Allele Identifier: CA400478921

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 483198
• ClinVar RCV Id: RCV000574108 ; RCV000702483 ; RCV003478252 ; RCV003994022
• dbSNP Id: rs1555572672
• MyVariant Identifiers: chr17:g.59761057G>A (hg19) ; chr17:g.61683696G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683696G>A , CM000679.2:g.61683696G>A	GRCh38
NC_000017.10:g.59761057G>A , CM000679.1:g.59761057G>A	GRCh37
NC_000017.9:g.57115839G>A	NCBI36
NG_007409.2:g.184864C>T , LRG_300:g.184864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2090C>T
ENST00000682453.1:c.3350C>T	ENSP00000506943.1:p.Ser1117Leu
ENST00000682477.1:c.*2776C>T	ENSP00000507075.1:n.*2776C>T
ENST00000682589.1:n.9227C>T
ENST00000682755.1:c.3128C>T	ENSP00000507660.1:p.Ser1043Leu
ENST00000682989.1:c.*441C>T	ENSP00000507786.1:n.*441C>T
ENST00000683039.1:c.3350C>T	ENSP00000508303.1:p.Ser1117Leu
ENST00000683235.1:c.*765C>T	ENSP00000507646.1:n.*765C>T
ENST00000683535.1:n.1480C>T
ENST00000684584.1:c.2513C>T	ENSP00000508044.1:p.Ser838Leu
ENST00000684626.1:n.1596C>T
ENST00000684769.1:c.1540C>T	ENSP00000507691.1:n.1540C>T
ENST00000259008.7:c.3350C>T MANE Select	ENSP00000259008.2:p.Ser1117Leu
ENST00000259008.6:c.3350C>T	ENSP00000259008.2:p.Ser1117Leu
NM_032043.2:c.3350C>T , LRG_300t1:c.3350C>T	NP_114432.2:p.Ser1117Leu
XM_011525332.1:c.3410C>T	XP_011523634.1:p.Ser1137Leu
XM_011525333.1:c.3410C>T	XP_011523635.1:p.Ser1137Leu
XM_011525334.1:c.3410C>T	XP_011523636.1:p.Ser1137Leu
XM_011525335.1:c.3350C>T	XP_011523637.1:p.Ser1117Leu
XM_011525336.1:c.3290C>T	XP_011523638.1:p.Ser1097Leu
XM_011525337.1:c.3209C>T	XP_011523639.1:p.Ser1070Leu
XM_011525338.1:c.2927C>T	XP_011523640.1:p.Ser976Leu
XM_011525332.3:c.3410C>T	XP_011523634.1:p.Ser1137Leu
XM_011525333.3:c.3410C>T	XP_011523635.1:p.Ser1137Leu
XM_011525334.2:c.3410C>T	XP_011523636.1:p.Ser1137Leu
XM_011525335.3:c.3350C>T	XP_011523637.1:p.Ser1117Leu
XM_011525336.2:c.3290C>T	XP_011523638.1:p.Ser1097Leu
XM_011525337.2:c.3209C>T	XP_011523639.1:p.Ser1070Leu
XM_011525338.2:c.2927C>T	XP_011523640.1:p.Ser976Leu
XM_017025200.1:c.2867C>T	XP_016880689.1:p.Ser956Leu
XM_017025201.1:c.2867C>T	XP_016880690.1:p.Ser956Leu
XM_017025202.1:c.1496C>T	XP_016880691.1:p.Ser499Leu
XM_017025203.1:c.1496C>T	XP_016880692.1:p.Ser499Leu
NM_032043.3:c.3350C>T MANE Select	NP_114432.2:p.Ser1117Leu