Canonical Allele Identifier: CA400478065

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1733170
• ClinVar RCV Id: RCV002455283
• dbSNP Id: rs1285317687
• gnomAD v2: 17-59760800-C-T
• gnomAD v3: 17-61683439-C-T
• gnomAD v4: 17-61683439-C-T
• MyVariant Identifiers: chr17:g.59760800C>T (hg19) ; chr17:g.61683439C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683439C>T , CM000679.2:g.61683439C>T	GRCh38
NC_000017.10:g.59760800C>T , CM000679.1:g.59760800C>T	GRCh37
NC_000017.9:g.57115582C>T	NCBI36
NG_007409.2:g.185121G>A , LRG_300:g.185121G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2347G>A
ENST00000682453.1:c.3607G>A	ENSP00000506943.1:p.Glu1203Lys
ENST00000682477.1:c.*3033G>A	ENSP00000507075.1:n.*3033G>A
ENST00000682589.1:n.9484G>A
ENST00000682755.1:c.3385G>A	ENSP00000507660.1:p.Glu1129Lys
ENST00000682989.1:c.*698G>A	ENSP00000507786.1:n.*698G>A
ENST00000683039.1:c.3607G>A	ENSP00000508303.1:p.Glu1203Lys
ENST00000683235.1:c.*1022G>A	ENSP00000507646.1:n.*1022G>A
ENST00000683535.1:n.1737G>A
ENST00000684584.1:c.2770G>A	ENSP00000508044.1:p.Glu924Lys
ENST00000684626.1:n.1853G>A
ENST00000684769.1:c.1797G>A	ENSP00000507691.1:n.1797G>A
ENST00000259008.7:c.3607G>A MANE Select	ENSP00000259008.2:p.Glu1203Lys
ENST00000259008.6:c.3607G>A	ENSP00000259008.2:p.Glu1203Lys
NM_032043.2:c.3607G>A , LRG_300t1:c.3607G>A	NP_114432.2:p.Glu1203Lys
XM_011525332.1:c.3667G>A	XP_011523634.1:p.Glu1223Lys
XM_011525333.1:c.3667G>A	XP_011523635.1:p.Glu1223Lys
XM_011525334.1:c.3667G>A	XP_011523636.1:p.Glu1223Lys
XM_011525335.1:c.3607G>A	XP_011523637.1:p.Glu1203Lys
XM_011525336.1:c.3547G>A	XP_011523638.1:p.Glu1183Lys
XM_011525337.1:c.3466G>A	XP_011523639.1:p.Glu1156Lys
XM_011525338.1:c.3184G>A	XP_011523640.1:p.Glu1062Lys
XM_011525332.3:c.3667G>A	XP_011523634.1:p.Glu1223Lys
XM_011525333.3:c.3667G>A	XP_011523635.1:p.Glu1223Lys
XM_011525334.2:c.3667G>A	XP_011523636.1:p.Glu1223Lys
XM_011525335.3:c.3607G>A	XP_011523637.1:p.Glu1203Lys
XM_011525336.2:c.3547G>A	XP_011523638.1:p.Glu1183Lys
XM_011525337.2:c.3466G>A	XP_011523639.1:p.Glu1156Lys
XM_011525338.2:c.3184G>A	XP_011523640.1:p.Glu1062Lys
XM_017025200.1:c.3124G>A	XP_016880689.1:p.Glu1042Lys
XM_017025201.1:c.3124G>A	XP_016880690.1:p.Glu1042Lys
XM_017025202.1:c.1753G>A	XP_016880691.1:p.Glu585Lys
XM_017025203.1:c.1753G>A	XP_016880692.1:p.Glu585Lys
NM_032043.3:c.3607G>A MANE Select	NP_114432.2:p.Glu1203Lys