Canonical Allele Identifier: CA190522

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 184936
• ClinVar RCV Id: RCV000164278 ; RCV001055593 ; RCV004539546
• dbSNP Id: rs786201802
• gnomAD v4: 17-61693481-G-A
• MyVariant Identifiers: chr17:g.59770842G>A (hg19) ; chr17:g.61693481G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61693481G>A , CM000679.2:g.61693481G>A	GRCh38
NC_000017.10:g.59770842G>A , CM000679.1:g.59770842G>A	GRCh37
NC_000017.9:g.57125624G>A	NCBI36
NG_007409.2:g.175079C>T , LRG_300:g.175079C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2654C>T	ENSP00000507191.1:n.2654C>T
ENST00000682073.1:n.1264C>T
ENST00000682433.1:n.1603C>T
ENST00000682453.1:c.2524C>T	ENSP00000506943.1:p.Leu842Phe
ENST00000682477.1:c.*1950C>T	ENSP00000507075.1:n.*1950C>T
ENST00000682589.1:n.8401C>T
ENST00000682755.1:c.2302C>T	ENSP00000507660.1:p.Leu768Phe
ENST00000682989.1:c.2493-5009C>T	ENSP00000507786.1:n.2493-5009C>T
ENST00000683039.1:c.2524C>T	ENSP00000508303.1:p.Leu842Phe
ENST00000683235.1:c.2493-7316C>T	ENSP00000507646.1:n.2493-7316C>T
ENST00000683535.1:n.654C>T
ENST00000684471.1:n.937C>T
ENST00000684584.1:c.2017C>T	ENSP00000508044.1:p.Leu673Phe
ENST00000684626.1:n.822-7316C>T
ENST00000684769.1:c.589C>T	ENSP00000507691.1:p.Leu197Phe
ENST00000259008.7:c.2524C>T MANE Select	ENSP00000259008.2:p.Leu842Phe
ENST00000259008.6:c.2524C>T	ENSP00000259008.2:p.Leu842Phe
ENST00000577598.5:c.2524C>T	ENSP00000464654.1:p.Leu842Phe
NM_032043.2:c.2524C>T , LRG_300t1:c.2524C>T	NP_114432.2:p.Leu842Phe
XM_011525332.1:c.2584C>T	XP_011523634.1:p.Leu862Phe
XM_011525333.1:c.2584C>T	XP_011523635.1:p.Leu862Phe
XM_011525334.1:c.2584C>T	XP_011523636.1:p.Leu862Phe
XM_011525335.1:c.2524C>T	XP_011523637.1:p.Leu842Phe
XM_011525336.1:c.2464C>T	XP_011523638.1:p.Leu822Phe
XM_011525337.1:c.2383C>T	XP_011523639.1:p.Leu795Phe
XM_011525338.1:c.2101C>T	XP_011523640.1:p.Leu701Phe
XM_011525340.1:c.2553-7316C>T	XP_011523642.1:n.2553-7316C>T
XM_011525332.3:c.2584C>T	XP_011523634.1:p.Leu862Phe
XM_011525333.3:c.2584C>T	XP_011523635.1:p.Leu862Phe
XM_011525334.2:c.2584C>T	XP_011523636.1:p.Leu862Phe
XM_011525335.3:c.2524C>T	XP_011523637.1:p.Leu842Phe
XM_011525336.2:c.2464C>T	XP_011523638.1:p.Leu822Phe
XM_011525337.2:c.2383C>T	XP_011523639.1:p.Leu795Phe
XM_011525338.2:c.2101C>T	XP_011523640.1:p.Leu701Phe
XM_011525340.3:c.2553-7316C>T	XP_011523642.1:n.2553-7316C>T
XM_017025200.1:c.2041C>T	XP_016880689.1:p.Leu681Phe
XM_017025201.1:c.2041C>T	XP_016880690.1:p.Leu681Phe
XM_017025202.1:c.670C>T	XP_016880691.1:p.Leu224Phe
XM_017025203.1:c.670C>T	XP_016880692.1:p.Leu224Phe
NM_032043.3:c.2524C>T MANE Select	NP_114432.2:p.Leu842Phe