Canonical Allele Identifier: CA400477986

Gene: BRIP1

Linked Data

• dbSNP Id: rs1223419621
• gnomAD v2: 17-59760784-T-A
• gnomAD v4: 17-61683423-T-A
• MyVariant Identifiers: chr17:g.59760784T>A (hg19) ; chr17:g.61683423T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683423T>A , CM000679.2:g.61683423T>A	GRCh38
NC_000017.10:g.59760784T>A , CM000679.1:g.59760784T>A	GRCh37
NC_000017.9:g.57115566T>A	NCBI36
NG_007409.2:g.185137A>T , LRG_300:g.185137A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2363A>T
ENST00000682453.1:c.3623A>T	ENSP00000506943.1:p.Asp1208Val
ENST00000682477.1:c.*3049A>T	ENSP00000507075.1:n.*3049A>T
ENST00000682589.1:n.9500A>T
ENST00000682755.1:c.3401A>T	ENSP00000507660.1:p.Asp1134Val
ENST00000682989.1:c.*714A>T	ENSP00000507786.1:n.*714A>T
ENST00000683039.1:c.3623A>T	ENSP00000508303.1:p.Asp1208Val
ENST00000683235.1:c.*1038A>T	ENSP00000507646.1:n.*1038A>T
ENST00000683535.1:n.1753A>T
ENST00000684584.1:c.2786A>T	ENSP00000508044.1:p.Asp929Val
ENST00000684626.1:n.1869A>T
ENST00000684769.1:c.1813A>T	ENSP00000507691.1:n.1813A>T
ENST00000259008.7:c.3623A>T MANE Select	ENSP00000259008.2:p.Asp1208Val
ENST00000259008.6:c.3623A>T	ENSP00000259008.2:p.Asp1208Val
NM_032043.2:c.3623A>T , LRG_300t1:c.3623A>T	NP_114432.2:p.Asp1208Val
XM_011525332.1:c.3683A>T	XP_011523634.1:p.Asp1228Val
XM_011525333.1:c.3683A>T	XP_011523635.1:p.Asp1228Val
XM_011525334.1:c.3683A>T	XP_011523636.1:p.Asp1228Val
XM_011525335.1:c.3623A>T	XP_011523637.1:p.Asp1208Val
XM_011525336.1:c.3563A>T	XP_011523638.1:p.Asp1188Val
XM_011525337.1:c.3482A>T	XP_011523639.1:p.Asp1161Val
XM_011525338.1:c.3200A>T	XP_011523640.1:p.Asp1067Val
XM_011525332.3:c.3683A>T	XP_011523634.1:p.Asp1228Val
XM_011525333.3:c.3683A>T	XP_011523635.1:p.Asp1228Val
XM_011525334.2:c.3683A>T	XP_011523636.1:p.Asp1228Val
XM_011525335.3:c.3623A>T	XP_011523637.1:p.Asp1208Val
XM_011525336.2:c.3563A>T	XP_011523638.1:p.Asp1188Val
XM_011525337.2:c.3482A>T	XP_011523639.1:p.Asp1161Val
XM_011525338.2:c.3200A>T	XP_011523640.1:p.Asp1067Val
XM_017025200.1:c.3140A>T	XP_016880689.1:p.Asp1047Val
XM_017025201.1:c.3140A>T	XP_016880690.1:p.Asp1047Val
XM_017025202.1:c.1769A>T	XP_016880691.1:p.Asp590Val
XM_017025203.1:c.1769A>T	XP_016880692.1:p.Asp590Val
NM_032043.3:c.3623A>T MANE Select	NP_114432.2:p.Asp1208Val