Canonical Allele Identifier: CA400478710

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 823778
• ClinVar RCV Id: RCV001020320
• dbSNP Id: rs28997573
• MyVariant Identifiers: chr17:g.59760963G>C (hg19) ; chr17:g.61683602G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683602G>C , CM000679.2:g.61683602G>C	GRCh38
NC_000017.10:g.59760963G>C , CM000679.1:g.59760963G>C	GRCh37
NC_000017.9:g.57115745G>C	NCBI36
NG_007409.2:g.184958C>G , LRG_300:g.184958C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2184C>G
ENST00000682453.1:c.3444C>G	ENSP00000506943.1:p.Asp1148Glu
ENST00000682477.1:c.*2870C>G	ENSP00000507075.1:n.*2870C>G
ENST00000682589.1:n.9321C>G
ENST00000682755.1:c.3222C>G	ENSP00000507660.1:p.Asp1074Glu
ENST00000682989.1:c.*535C>G	ENSP00000507786.1:n.*535C>G
ENST00000683039.1:c.3444C>G	ENSP00000508303.1:p.Asp1148Glu
ENST00000683235.1:c.*859C>G	ENSP00000507646.1:n.*859C>G
ENST00000683535.1:n.1574C>G
ENST00000684584.1:c.2607C>G	ENSP00000508044.1:p.Asp869Glu
ENST00000684626.1:n.1690C>G
ENST00000684769.1:c.1634C>G	ENSP00000507691.1:n.1634C>G
ENST00000259008.7:c.3444C>G MANE Select	ENSP00000259008.2:p.Asp1148Glu
ENST00000259008.6:c.3444C>G	ENSP00000259008.2:p.Asp1148Glu
NM_032043.2:c.3444C>G , LRG_300t1:c.3444C>G	NP_114432.2:p.Asp1148Glu
XM_011525332.1:c.3504C>G	XP_011523634.1:p.Asp1168Glu
XM_011525333.1:c.3504C>G	XP_011523635.1:p.Asp1168Glu
XM_011525334.1:c.3504C>G	XP_011523636.1:p.Asp1168Glu
XM_011525335.1:c.3444C>G	XP_011523637.1:p.Asp1148Glu
XM_011525336.1:c.3384C>G	XP_011523638.1:p.Asp1128Glu
XM_011525337.1:c.3303C>G	XP_011523639.1:p.Asp1101Glu
XM_011525338.1:c.3021C>G	XP_011523640.1:p.Asp1007Glu
XM_011525332.3:c.3504C>G	XP_011523634.1:p.Asp1168Glu
XM_011525333.3:c.3504C>G	XP_011523635.1:p.Asp1168Glu
XM_011525334.2:c.3504C>G	XP_011523636.1:p.Asp1168Glu
XM_011525335.3:c.3444C>G	XP_011523637.1:p.Asp1148Glu
XM_011525336.2:c.3384C>G	XP_011523638.1:p.Asp1128Glu
XM_011525337.2:c.3303C>G	XP_011523639.1:p.Asp1101Glu
XM_011525338.2:c.3021C>G	XP_011523640.1:p.Asp1007Glu
XM_017025200.1:c.2961C>G	XP_016880689.1:p.Asp987Glu
XM_017025201.1:c.2961C>G	XP_016880690.1:p.Asp987Glu
XM_017025202.1:c.1590C>G	XP_016880691.1:p.Asp530Glu
XM_017025203.1:c.1590C>G	XP_016880692.1:p.Asp530Glu
NM_032043.3:c.3444C>G MANE Select	NP_114432.2:p.Asp1148Glu