Canonical Allele Identifier: CA400483174

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1002937
• ClinVar RCV Id: RCV001299431
• dbSNP Id: rs1060504335
• gnomAD v4: 17-61847179-C-G
• MyVariant Identifiers: chr17:g.59924540C>G (hg19) ; chr17:g.61847179C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61847179C>G , CM000679.2:g.61847179C>G	GRCh38
NC_000017.10:g.59924540C>G , CM000679.1:g.59924540C>G	GRCh37
NC_000017.9:g.57279322C>G	NCBI36
NG_007409.2:g.21381G>C , LRG_300:g.21381G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000577913.2:c.549G>C	ENSP00000462274.2:p.Leu183Phe
ENST00000579028.2:c.42G>C	ENSP00000463827.2:p.Leu14Phe
ENST00000584322.2:c.549G>C	ENSP00000463272.2:p.Leu183Phe
ENST00000682066.1:c.42G>C	ENSP00000507191.1:p.Leu14Phe
ENST00000682369.1:c.549G>C	ENSP00000507450.1:p.Leu183Phe
ENST00000682453.1:c.549G>C	ENSP00000506943.1:p.Leu183Phe
ENST00000682477.1:c.549G>C	ENSP00000507075.1:p.Leu183Phe
ENST00000682589.1:n.2290G>C
ENST00000682611.1:c.42G>C	ENSP00000508326.1:p.Leu14Phe
ENST00000682755.1:c.549G>C	ENSP00000507660.1:p.Leu183Phe
ENST00000682989.1:c.549G>C	ENSP00000507786.1:p.Leu183Phe
ENST00000683039.1:c.549G>C	ENSP00000508303.1:p.Leu183Phe
ENST00000683235.1:c.549G>C	ENSP00000507646.1:p.Leu183Phe
ENST00000683381.1:c.549G>C	ENSP00000508184.1:p.Leu183Phe
ENST00000683672.1:c.*37G>C	ENSP00000506781.1:n.*37G>C
ENST00000683692.1:c.42G>C	ENSP00000507964.1:p.Leu14Phe
ENST00000684584.1:c.42G>C	ENSP00000508044.1:p.Leu14Phe
ENST00000259008.7:c.549G>C MANE Select	ENSP00000259008.2:p.Leu183Phe
ENST00000259008.6:c.549G>C	ENSP00000259008.2:p.Leu183Phe
ENST00000577598.5:c.549G>C	ENSP00000464654.1:p.Leu183Phe
NM_032043.2:c.549G>C , LRG_300t1:c.549G>C	NP_114432.2:p.Leu183Phe
XM_011525332.1:c.549G>C	XP_011523634.1:p.Leu183Phe
XM_011525333.1:c.549G>C	XP_011523635.1:p.Leu183Phe
XM_011525334.1:c.549G>C	XP_011523636.1:p.Leu183Phe
XM_011525335.1:c.549G>C	XP_011523637.1:p.Leu183Phe
XM_011525336.1:c.549G>C	XP_011523638.1:p.Leu183Phe
XM_011525337.1:c.549G>C	XP_011523639.1:p.Leu183Phe
XM_011525338.1:c.66G>C	XP_011523640.1:p.Leu22Phe
XM_011525339.1:c.549G>C	XP_011523641.1:p.Leu183Phe
XM_011525340.1:c.549G>C	XP_011523642.1:p.Leu183Phe
XM_011525341.1:c.549G>C	XP_011523643.1:p.Leu183Phe
XM_011525332.3:c.549G>C	XP_011523634.1:p.Leu183Phe
XM_011525333.3:c.549G>C	XP_011523635.1:p.Leu183Phe
XM_011525334.2:c.549G>C	XP_011523636.1:p.Leu183Phe
XM_011525335.3:c.549G>C	XP_011523637.1:p.Leu183Phe
XM_011525336.2:c.549G>C	XP_011523638.1:p.Leu183Phe
XM_011525337.2:c.549G>C	XP_011523639.1:p.Leu183Phe
XM_011525338.2:c.66G>C	XP_011523640.1:p.Leu22Phe
XM_011525339.3:c.549G>C	XP_011523641.1:p.Leu183Phe
XM_011525340.3:c.549G>C	XP_011523642.1:p.Leu183Phe
XM_011525341.3:c.549G>C	XP_011523643.1:p.Leu183Phe
XM_017025200.1:c.66G>C	XP_016880689.1:p.Leu22Phe
NM_032043.3:c.549G>C MANE Select	NP_114432.2:p.Leu183Phe