Canonical Allele Identifier: CA348725

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 220601
• ClinVar RCV Id: RCV000204500 ; RCV000568412 ; RCV000709549 ; RCV001348527 ; RCV001753619
• dbSNP Id: rs864622597
• MyVariant Identifiers: chr17:g.59871093G>C (hg19) ; chr17:g.61793732G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61793732G>C , CM000679.2:g.61793732G>C	GRCh38
NC_000017.10:g.59871093G>C , CM000679.1:g.59871093G>C	GRCh37
NC_000017.9:g.57225875G>C	NCBI36
NG_007409.2:g.74828C>G , LRG_300:g.74828C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.834-3C>G	ENSP00000463827.2:n.834-3C>G
ENST00000584322.2:c.1341-3C>G	ENSP00000463272.2:n.1341-3C>G
ENST00000682066.1:c.834-3C>G	ENSP00000507191.1:n.834-3C>G
ENST00000682453.1:c.1341-3C>G	ENSP00000506943.1:n.1341-3C>G
ENST00000682477.1:c.*767-3C>G	ENSP00000507075.1:n.*767-3C>G
ENST00000682589.1:n.3082-3C>G
ENST00000682611.1:c.834-3C>G	ENSP00000508326.1:n.834-3C>G
ENST00000682755.1:c.1119-3C>G	ENSP00000507660.1:n.1119-3C>G
ENST00000682989.1:c.1341-3C>G	ENSP00000507786.1:n.1341-3C>G
ENST00000683039.1:c.1341-3C>G	ENSP00000508303.1:n.1341-3C>G
ENST00000683235.1:c.1341-3C>G	ENSP00000507646.1:n.1341-3C>G
ENST00000683381.1:c.1341-3C>G	ENSP00000508184.1:n.1341-3C>G
ENST00000684584.1:c.834-3C>G	ENSP00000508044.1:n.834-3C>G
ENST00000259008.7:c.1341-3C>G MANE Select	ENSP00000259008.2:n.1341-3C>G
ENST00000259008.6:c.1341-3C>G	ENSP00000259008.2:n.1341-3C>G
ENST00000577598.5:c.1341-3C>G	ENSP00000464654.1:n.1341-3C>G
NM_032043.2:c.1341-3C>G , LRG_300t1:c.1341-3C>G	NP_114432.2:n.1341-3C>G
XM_011525332.1:c.1341-3C>G	XP_011523634.1:n.1341-3C>G
XM_011525333.1:c.1341-3C>G	XP_011523635.1:n.1341-3C>G
XM_011525334.1:c.1341-3C>G	XP_011523636.1:n.1341-3C>G
XM_011525335.1:c.1341-3C>G	XP_011523637.1:n.1341-3C>G
XM_011525336.1:c.1341-3C>G	XP_011523638.1:n.1341-3C>G
XM_011525337.1:c.1341-3C>G	XP_011523639.1:n.1341-3C>G
XM_011525338.1:c.858-3C>G	XP_011523640.1:n.858-3C>G
XM_011525339.1:c.1341-3C>G	XP_011523641.1:n.1341-3C>G
XM_011525340.1:c.1341-3C>G	XP_011523642.1:n.1341-3C>G
XM_011525341.1:c.1341-3C>G	XP_011523643.1:n.1341-3C>G
XM_011525332.3:c.1341-3C>G	XP_011523634.1:n.1341-3C>G
XM_011525333.3:c.1341-3C>G	XP_011523635.1:n.1341-3C>G
XM_011525334.2:c.1341-3C>G	XP_011523636.1:n.1341-3C>G
XM_011525335.3:c.1341-3C>G	XP_011523637.1:n.1341-3C>G
XM_011525336.2:c.1341-3C>G	XP_011523638.1:n.1341-3C>G
XM_011525337.2:c.1341-3C>G	XP_011523639.1:n.1341-3C>G
XM_011525338.2:c.858-3C>G	XP_011523640.1:n.858-3C>G
XM_011525339.3:c.1341-3C>G	XP_011523641.1:n.1341-3C>G
XM_011525340.3:c.1341-3C>G	XP_011523642.1:n.1341-3C>G
XM_011525341.3:c.1341-3C>G	XP_011523643.1:n.1341-3C>G
XM_017025200.1:c.858-3C>G	XP_016880689.1:n.858-3C>G
XM_017025201.1:c.798-3C>G	XP_016880690.1:n.798-3C>G
NM_032043.3:c.1341-3C>G MANE Select	NP_114432.2:n.1341-3C>G