Canonical Allele Identifier: CA16608567

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 383565
• ClinVar RCV Id: RCV000427580 ; RCV001015694 ; RCV002062630
• dbSNP Id: rs1057521675
• gnomAD v4: 17-61693516-G-C
• MyVariant Identifiers: chr17:g.59770877G>C (hg19) ; chr17:g.61693516G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61693516G>C , CM000679.2:g.61693516G>C	GRCh38
NC_000017.10:g.59770877G>C , CM000679.1:g.59770877G>C	GRCh37
NC_000017.9:g.57125659G>C	NCBI36
NG_007409.2:g.175044C>G , LRG_300:g.175044C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2623-4C>G	ENSP00000507191.1:n.2623-4C>G
ENST00000682073.1:n.1233-4C>G
ENST00000682433.1:n.1572-4C>G
ENST00000682453.1:c.2493-4C>G	ENSP00000506943.1:n.2493-4C>G
ENST00000682477.1:c.*1919-4C>G	ENSP00000507075.1:n.*1919-4C>G
ENST00000682589.1:n.8370-4C>G
ENST00000682755.1:c.2271-4C>G	ENSP00000507660.1:n.2271-4C>G
ENST00000682989.1:c.2493-5044C>G	ENSP00000507786.1:n.2493-5044C>G
ENST00000683039.1:c.2493-4C>G	ENSP00000508303.1:n.2493-4C>G
ENST00000683235.1:c.2493-7351C>G	ENSP00000507646.1:n.2493-7351C>G
ENST00000683535.1:n.623-4C>G
ENST00000684471.1:n.906-4C>G
ENST00000684584.1:c.1986-4C>G	ENSP00000508044.1:n.1986-4C>G
ENST00000684626.1:n.822-7351C>G
ENST00000684769.1:c.558-4C>G	ENSP00000507691.1:n.558-4C>G
ENST00000259008.7:c.2493-4C>G MANE Select	ENSP00000259008.2:n.2493-4C>G
ENST00000259008.6:c.2493-4C>G	ENSP00000259008.2:n.2493-4C>G
ENST00000577598.5:c.2493-4C>G	ENSP00000464654.1:n.2493-4C>G
NM_032043.2:c.2493-4C>G , LRG_300t1:c.2493-4C>G	NP_114432.2:n.2493-4C>G
XM_011525332.1:c.2553-4C>G	XP_011523634.1:n.2553-4C>G
XM_011525333.1:c.2553-4C>G	XP_011523635.1:n.2553-4C>G
XM_011525334.1:c.2553-4C>G	XP_011523636.1:n.2553-4C>G
XM_011525335.1:c.2493-4C>G	XP_011523637.1:n.2493-4C>G
XM_011525336.1:c.2433-4C>G	XP_011523638.1:n.2433-4C>G
XM_011525337.1:c.2352-4C>G	XP_011523639.1:n.2352-4C>G
XM_011525338.1:c.2070-4C>G	XP_011523640.1:n.2070-4C>G
XM_011525340.1:c.2553-7351C>G	XP_011523642.1:n.2553-7351C>G
XM_011525332.3:c.2553-4C>G	XP_011523634.1:n.2553-4C>G
XM_011525333.3:c.2553-4C>G	XP_011523635.1:n.2553-4C>G
XM_011525334.2:c.2553-4C>G	XP_011523636.1:n.2553-4C>G
XM_011525335.3:c.2493-4C>G	XP_011523637.1:n.2493-4C>G
XM_011525336.2:c.2433-4C>G	XP_011523638.1:n.2433-4C>G
XM_011525337.2:c.2352-4C>G	XP_011523639.1:n.2352-4C>G
XM_011525338.2:c.2070-4C>G	XP_011523640.1:n.2070-4C>G
XM_011525340.3:c.2553-7351C>G	XP_011523642.1:n.2553-7351C>G
XM_017025200.1:c.2010-4C>G	XP_016880689.1:n.2010-4C>G
XM_017025201.1:c.2010-4C>G	XP_016880690.1:n.2010-4C>G
XM_017025202.1:c.639-4C>G	XP_016880691.1:n.639-4C>G
XM_017025203.1:c.639-4C>G	XP_016880692.1:n.639-4C>G
NM_032043.3:c.2493-4C>G MANE Select	NP_114432.2:n.2493-4C>G