Canonical Allele Identifier: CA10583623

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 241640
• ClinVar RCV Id: RCV000230937 ; RCV001183557 ; RCV003332156
• dbSNP Id: rs876660416
• MyVariant Identifiers: chr17:g.59821812G>T (hg19) ; chr17:g.61744451G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61744451G>T , CM000679.2:g.61744451G>T	GRCh38
NC_000017.10:g.59821812G>T , CM000679.1:g.59821812G>T	GRCh37
NC_000017.9:g.57176594G>T	NCBI36
NG_007409.2:g.124109C>A , LRG_300:g.124109C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.1820C>A	ENSP00000463827.2:n.1820C>A
ENST00000584322.2:c.2238C>A	ENSP00000463272.2:p.Ile746=
ENST00000682066.1:c.2368C>A	ENSP00000507191.1:n.2368C>A
ENST00000682073.1:n.978C>A
ENST00000682433.1:n.1317C>A
ENST00000682453.1:c.2238C>A	ENSP00000506943.1:p.Ile746=
ENST00000682477.1:c.*1664C>A	ENSP00000507075.1:n.*1664C>A
ENST00000682589.1:n.8115C>A
ENST00000682755.1:c.2016C>A	ENSP00000507660.1:p.Ile672=
ENST00000682989.1:c.2238C>A	ENSP00000507786.1:p.Ile746=
ENST00000683039.1:c.2238C>A	ENSP00000508303.1:p.Ile746=
ENST00000683235.1:c.2238C>A	ENSP00000507646.1:p.Ile746=
ENST00000683381.1:c.2298C>A	ENSP00000508184.1:p.Ile766=
ENST00000683535.1:n.368C>A
ENST00000684471.1:n.651C>A
ENST00000684584.1:c.1731C>A	ENSP00000508044.1:p.Ile577=
ENST00000684769.1:c.303C>A	ENSP00000507691.1:p.Ile101=
ENST00000259008.7:c.2238C>A MANE Select	ENSP00000259008.2:p.Ile746=
ENST00000259008.6:c.2238C>A	ENSP00000259008.2:p.Ile746=
ENST00000577598.5:c.2238C>A	ENSP00000464654.1:p.Ile746=
ENST00000584322.1:c.221C>A
NM_032043.2:c.2238C>A , LRG_300t1:c.2238C>A	NP_114432.2:p.Ile746=
XM_011525332.1:c.2298C>A	XP_011523634.1:p.Ile766=
XM_011525333.1:c.2298C>A	XP_011523635.1:p.Ile766=
XM_011525334.1:c.2298C>A	XP_011523636.1:p.Ile766=
XM_011525335.1:c.2238C>A	XP_011523637.1:p.Ile746=
XM_011525336.1:c.2178C>A	XP_011523638.1:p.Ile726=
XM_011525337.1:c.2097C>A	XP_011523639.1:p.Ile699=
XM_011525338.1:c.1815C>A	XP_011523640.1:p.Ile605=
XM_011525339.1:c.2298C>A	XP_011523641.1:p.Ile766=
XM_011525340.1:c.2298C>A	XP_011523642.1:p.Ile766=
XM_011525332.3:c.2298C>A	XP_011523634.1:p.Ile766=
XM_011525333.3:c.2298C>A	XP_011523635.1:p.Ile766=
XM_011525334.2:c.2298C>A	XP_011523636.1:p.Ile766=
XM_011525335.3:c.2238C>A	XP_011523637.1:p.Ile746=
XM_011525336.2:c.2178C>A	XP_011523638.1:p.Ile726=
XM_011525337.2:c.2097C>A	XP_011523639.1:p.Ile699=
XM_011525338.2:c.1815C>A	XP_011523640.1:p.Ile605=
XM_011525339.3:c.2298C>A	XP_011523641.1:p.Ile766=
XM_011525340.3:c.2298C>A	XP_011523642.1:p.Ile766=
XM_017025200.1:c.1755C>A	XP_016880689.1:p.Ile585=
XM_017025201.1:c.1755C>A	XP_016880690.1:p.Ile585=
XM_017025202.1:c.384C>A	XP_016880691.1:p.Ile128=
XM_017025203.1:c.384C>A	XP_016880692.1:p.Ile128=
NM_032043.3:c.2238C>A MANE Select	NP_114432.2:p.Ile746=