Canonical Allele Identifier: CA10640133

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 324338
• ClinVar RCV Id: RCV000335935
• dbSNP Id: rs556729826
• gnomAD v2: 17-59760277-G-A
• gnomAD v3: 17-61682916-G-A
• gnomAD v4: 17-61682916-G-A
• MyVariant Identifiers: chr17:g.59760277G>A (hg19) ; chr17:g.61682916G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61682916G>A , CM000679.2:g.61682916G>A	GRCh38
NC_000017.10:g.59760277G>A , CM000679.1:g.59760277G>A	GRCh37
NC_000017.9:g.57115059G>A	NCBI36
NG_007409.2:g.185644C>T , LRG_300:g.185644C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2870C>T
ENST00000682453.1:c.*380C>T	ENSP00000506943.1:n.*380C>T
ENST00000682477.1:c.*3556C>T	ENSP00000507075.1:n.*3556C>T
ENST00000682589.1:n.10007C>T
ENST00000682755.1:c.*380C>T	ENSP00000507660.1:n.*380C>T
ENST00000682989.1:c.*1221C>T	ENSP00000507786.1:n.*1221C>T
ENST00000683039.1:c.*380C>T	ENSP00000508303.1:n.*380C>T
ENST00000683235.1:c.*1545C>T	ENSP00000507646.1:n.*1545C>T
ENST00000683535.1:n.2260C>T
ENST00000684584.1:c.3293C>T	ENSP00000508044.1:n.3293C>T
ENST00000684626.1:n.2376C>T
ENST00000684769.1:c.2320C>T	ENSP00000507691.1:n.2320C>T
ENST00000259008.7:c.*380C>T MANE Select	ENSP00000259008.2:n.*380C>T
ENST00000259008.6:c.*380C>T	ENSP00000259008.2:n.*380C>T
NM_032043.2:c.*380C>T , LRG_300t1:c.*380C>T	NP_114432.2:n.*380C>T
XM_011525332.1:c.*380C>T	XP_011523634.1:n.*380C>T
XM_011525333.1:c.*380C>T	XP_011523635.1:n.*380C>T
XM_011525334.1:c.*380C>T	XP_011523636.1:n.*380C>T
XM_011525335.1:c.*380C>T	XP_011523637.1:n.*380C>T
XM_011525336.1:c.*380C>T	XP_011523638.1:n.*380C>T
XM_011525337.1:c.*380C>T	XP_011523639.1:n.*380C>T
XM_011525338.1:c.*380C>T	XP_011523640.1:n.*380C>T
XM_011525332.3:c.*380C>T	XP_011523634.1:n.*380C>T
XM_011525333.3:c.*380C>T	XP_011523635.1:n.*380C>T
XM_011525334.2:c.*380C>T	XP_011523636.1:n.*380C>T
XM_011525335.3:c.*380C>T	XP_011523637.1:n.*380C>T
XM_011525336.2:c.*380C>T	XP_011523638.1:n.*380C>T
XM_011525337.2:c.*380C>T	XP_011523639.1:n.*380C>T
XM_011525338.2:c.*380C>T	XP_011523640.1:n.*380C>T
XM_017025200.1:c.*380C>T	XP_016880689.1:n.*380C>T
XM_017025201.1:c.*380C>T	XP_016880690.1:n.*380C>T
XM_017025202.1:c.*380C>T	XP_016880691.1:n.*380C>T
XM_017025203.1:c.*380C>T	XP_016880692.1:n.*380C>T
NM_032043.3:c.*380C>T MANE Select	NP_114432.2:n.*380C>T