Canonical Allele Identifier: CA400481015

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685818G>A , CM000679.2:g.61685818G>A	GRCh38
NC_000017.10:g.59763179G>A , CM000679.1:g.59763179G>A	GRCh37
NC_000017.9:g.57117961G>A	NCBI36
NG_007409.2:g.182742C>T , LRG_300:g.182742C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.3053C>T	ENSP00000507191.1:n.3053C>T
ENST00000682073.1:n.1645+18C>T
ENST00000682433.1:n.2002C>T
ENST00000682453.1:c.2905+18C>T	ENSP00000506943.1:n.2905+18C>T
ENST00000682477.1:c.*2331+18C>T	ENSP00000507075.1:n.*2331+18C>T
ENST00000682589.1:n.8782+18C>T
ENST00000682755.1:c.2683+18C>T	ENSP00000507660.1:n.2683+18C>T
ENST00000682989.1:c.2610-1678C>T	ENSP00000507786.1:n.2610-1678C>T
ENST00000683039.1:c.2905+18C>T	ENSP00000508303.1:n.2905+18C>T
ENST00000683235.1:c.*320+18C>T	ENSP00000507646.1:n.*320+18C>T
ENST00000683535.1:n.1035+18C>T
ENST00000684471.1:n.1336C>T
ENST00000684584.1:c.2069-1678C>T	ENSP00000508044.1:n.2069-1678C>T
ENST00000684626.1:n.1151+18C>T
ENST00000684769.1:c.1095+18C>T	ENSP00000507691.1:n.1095+18C>T
ENST00000259008.7:c.2905+18C>T MANE Select	ENSP00000259008.2:n.2905+18C>T
ENST00000259008.6:c.2905+18C>T	ENSP00000259008.2:n.2905+18C>T
ENST00000577598.5:c.2923C>T	ENSP00000464654.1:p.His975Tyr
NM_032043.2:c.2905+18C>T , LRG_300t1:c.2905+18C>T	NP_114432.2:n.2905+18C>T
XM_011525332.1:c.2965+18C>T	XP_011523634.1:n.2965+18C>T
XM_011525333.1:c.2965+18C>T	XP_011523635.1:n.2965+18C>T
XM_011525334.1:c.2965+18C>T	XP_011523636.1:n.2965+18C>T
XM_011525335.1:c.2905+18C>T	XP_011523637.1:n.2905+18C>T
XM_011525336.1:c.2845+18C>T	XP_011523638.1:n.2845+18C>T
XM_011525337.1:c.2764+18C>T	XP_011523639.1:n.2764+18C>T
XM_011525338.1:c.2482+18C>T	XP_011523640.1:n.2482+18C>T
XM_011525332.3:c.2965+18C>T	XP_011523634.1:n.2965+18C>T
XM_011525333.3:c.2965+18C>T	XP_011523635.1:n.2965+18C>T
XM_011525334.2:c.2965+18C>T	XP_011523636.1:n.2965+18C>T
XM_011525335.3:c.2905+18C>T	XP_011523637.1:n.2905+18C>T
XM_011525336.2:c.2845+18C>T	XP_011523638.1:n.2845+18C>T
XM_011525337.2:c.2764+18C>T	XP_011523639.1:n.2764+18C>T
XM_011525338.2:c.2482+18C>T	XP_011523640.1:n.2482+18C>T
XM_017025200.1:c.2422+18C>T	XP_016880689.1:n.2422+18C>T
XM_017025201.1:c.2422+18C>T	XP_016880690.1:n.2422+18C>T
XM_017025202.1:c.1051+18C>T	XP_016880691.1:n.1051+18C>T
XM_017025203.1:c.1051+18C>T	XP_016880692.1:n.1051+18C>T
NM_032043.3:c.2905+18C>T MANE Select	NP_114432.2:n.2905+18C>T