Canonical Allele Identifier: CA8690378

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 479476
• ClinVar RCV Id: RCV000569744 ; RCV001313777
• dbSNP Id: rs764205156
• ExAC: 17:59761142 A / C
• gnomAD v2: 17-59761142-A-C
• MyVariant Identifiers: chr17:g.59761142A>C (hg19) ; chr17:g.61683781A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683781A>C , CM000679.2:g.61683781A>C	GRCh38
NC_000017.10:g.59761142A>C , CM000679.1:g.59761142A>C	GRCh37
NC_000017.9:g.57115924A>C	NCBI36
NG_007409.2:g.184779T>G , LRG_300:g.184779T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2005T>G
ENST00000682453.1:c.3265T>G	ENSP00000506943.1:p.Ser1089Ala
ENST00000682477.1:c.*2691T>G	ENSP00000507075.1:n.*2691T>G
ENST00000682589.1:n.9142T>G
ENST00000682755.1:c.3043T>G	ENSP00000507660.1:p.Ser1015Ala
ENST00000682989.1:c.*356T>G	ENSP00000507786.1:n.*356T>G
ENST00000683039.1:c.3265T>G	ENSP00000508303.1:p.Ser1089Ala
ENST00000683235.1:c.*680T>G	ENSP00000507646.1:n.*680T>G
ENST00000683535.1:n.1395T>G
ENST00000684584.1:c.2428T>G	ENSP00000508044.1:p.Ser810Ala
ENST00000684626.1:n.1511T>G
ENST00000684769.1:c.1455T>G	ENSP00000507691.1:n.1455T>G
ENST00000259008.7:c.3265T>G MANE Select	ENSP00000259008.2:p.Ser1089Ala
ENST00000259008.6:c.3265T>G	ENSP00000259008.2:p.Ser1089Ala
NM_032043.2:c.3265T>G , LRG_300t1:c.3265T>G	NP_114432.2:p.Ser1089Ala
XM_011525332.1:c.3325T>G	XP_011523634.1:p.Ser1109Ala
XM_011525333.1:c.3325T>G	XP_011523635.1:p.Ser1109Ala
XM_011525334.1:c.3325T>G	XP_011523636.1:p.Ser1109Ala
XM_011525335.1:c.3265T>G	XP_011523637.1:p.Ser1089Ala
XM_011525336.1:c.3205T>G	XP_011523638.1:p.Ser1069Ala
XM_011525337.1:c.3124T>G	XP_011523639.1:p.Ser1042Ala
XM_011525338.1:c.2842T>G	XP_011523640.1:p.Ser948Ala
XM_011525332.3:c.3325T>G	XP_011523634.1:p.Ser1109Ala
XM_011525333.3:c.3325T>G	XP_011523635.1:p.Ser1109Ala
XM_011525334.2:c.3325T>G	XP_011523636.1:p.Ser1109Ala
XM_011525335.3:c.3265T>G	XP_011523637.1:p.Ser1089Ala
XM_011525336.2:c.3205T>G	XP_011523638.1:p.Ser1069Ala
XM_011525337.2:c.3124T>G	XP_011523639.1:p.Ser1042Ala
XM_011525338.2:c.2842T>G	XP_011523640.1:p.Ser948Ala
XM_017025200.1:c.2782T>G	XP_016880689.1:p.Ser928Ala
XM_017025201.1:c.2782T>G	XP_016880690.1:p.Ser928Ala
XM_017025202.1:c.1411T>G	XP_016880691.1:p.Ser471Ala
XM_017025203.1:c.1411T>G	XP_016880692.1:p.Ser471Ala
NM_032043.3:c.3265T>G MANE Select	NP_114432.2:p.Ser1089Ala