Canonical Allele Identifier: CA400481623

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144112877
• MyVariant Identifiers: chr17:g.59763358T>C (hg19) ; chr17:g.61685997T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685997T>C , CM000679.2:g.61685997T>C	GRCh38
NC_000017.10:g.59763358T>C , CM000679.1:g.59763358T>C	GRCh37
NC_000017.9:g.57118140T>C	NCBI36
NG_007409.2:g.182563A>G , LRG_300:g.182563A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2874A>G	ENSP00000507191.1:n.2874A>G
ENST00000682073.1:n.1484A>G
ENST00000682433.1:n.1823A>G
ENST00000682453.1:c.2744A>G	ENSP00000506943.1:p.Lys915Arg
ENST00000682477.1:c.*2170A>G	ENSP00000507075.1:n.*2170A>G
ENST00000682589.1:n.8621A>G
ENST00000682755.1:c.2522A>G	ENSP00000507660.1:p.Lys841Arg
ENST00000682989.1:c.2610-1857A>G	ENSP00000507786.1:n.2610-1857A>G
ENST00000683039.1:c.2744A>G	ENSP00000508303.1:p.Lys915Arg
ENST00000683235.1:c.*159A>G	ENSP00000507646.1:n.*159A>G
ENST00000683535.1:n.874A>G
ENST00000684471.1:n.1157A>G
ENST00000684584.1:c.2069-1857A>G	ENSP00000508044.1:n.2069-1857A>G
ENST00000684626.1:n.990A>G
ENST00000684769.1:c.934A>G	ENSP00000507691.1:n.934A>G
ENST00000259008.7:c.2744A>G MANE Select	ENSP00000259008.2:p.Lys915Arg
ENST00000259008.6:c.2744A>G	ENSP00000259008.2:p.Lys915Arg
ENST00000577598.5:c.2744A>G	ENSP00000464654.1:p.Lys915Arg
NM_032043.2:c.2744A>G , LRG_300t1:c.2744A>G	NP_114432.2:p.Lys915Arg
XM_011525332.1:c.2804A>G	XP_011523634.1:p.Lys935Arg
XM_011525333.1:c.2804A>G	XP_011523635.1:p.Lys935Arg
XM_011525334.1:c.2804A>G	XP_011523636.1:p.Lys935Arg
XM_011525335.1:c.2744A>G	XP_011523637.1:p.Lys915Arg
XM_011525336.1:c.2684A>G	XP_011523638.1:p.Lys895Arg
XM_011525337.1:c.2603A>G	XP_011523639.1:p.Lys868Arg
XM_011525338.1:c.2321A>G	XP_011523640.1:p.Lys774Arg
XM_011525332.3:c.2804A>G	XP_011523634.1:p.Lys935Arg
XM_011525333.3:c.2804A>G	XP_011523635.1:p.Lys935Arg
XM_011525334.2:c.2804A>G	XP_011523636.1:p.Lys935Arg
XM_011525335.3:c.2744A>G	XP_011523637.1:p.Lys915Arg
XM_011525336.2:c.2684A>G	XP_011523638.1:p.Lys895Arg
XM_011525337.2:c.2603A>G	XP_011523639.1:p.Lys868Arg
XM_011525338.2:c.2321A>G	XP_011523640.1:p.Lys774Arg
XM_017025200.1:c.2261A>G	XP_016880689.1:p.Lys754Arg
XM_017025201.1:c.2261A>G	XP_016880690.1:p.Lys754Arg
XM_017025202.1:c.890A>G	XP_016880691.1:p.Lys297Arg
XM_017025203.1:c.890A>G	XP_016880692.1:p.Lys297Arg
NM_032043.3:c.2744A>G MANE Select	NP_114432.2:p.Lys915Arg