Canonical Allele Identifier: CA400481480

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685929C>A , CM000679.2:g.61685929C>A	GRCh38
NC_000017.10:g.59763290C>A , CM000679.1:g.59763290C>A	GRCh37
NC_000017.9:g.57118072C>A	NCBI36
NG_007409.2:g.182631G>T , LRG_300:g.182631G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2812G>T MANE Select	NP_114432.2:p.Glu938Ter
ENST00000259008.7:c.2812G>T MANE Select	ENSP00000259008.2:p.Glu938Ter
NM_032043.2:c.2812G>T , LRG_300t1:c.2812G>T	NP_114432.2:p.Glu938Ter
ENST00000259008.6:c.2812G>T	ENSP00000259008.2:p.Glu938Ter
ENST00000577598.5:c.2812G>T	ENSP00000464654.1:p.Glu938Ter
ENST00000682066.1:c.2942G>T	ENSP00000507191.1:n.2942G>T
ENST00000682073.1:n.1552G>T
ENST00000682433.1:n.1891G>T
ENST00000682453.1:c.2812G>T	ENSP00000506943.1:p.Glu938Ter
ENST00000682477.1:c.*2238G>T	ENSP00000507075.1:n.*2238G>T
ENST00000682589.1:n.8689G>T
ENST00000682755.1:c.2590G>T	ENSP00000507660.1:p.Glu864Ter
ENST00000682989.1:c.2610-1789G>T	ENSP00000507786.1:n.2610-1789G>T
ENST00000683039.1:c.2812G>T	ENSP00000508303.1:p.Glu938Ter
ENST00000683235.1:c.*227G>T	ENSP00000507646.1:n.*227G>T
ENST00000683535.1:n.942G>T
ENST00000684471.1:n.1225G>T
ENST00000684584.1:c.2069-1789G>T	ENSP00000508044.1:n.2069-1789G>T
ENST00000684626.1:n.1058G>T
ENST00000684769.1:c.1002G>T	ENSP00000507691.1:n.1002G>T
XM_011525332.1:c.2872G>T	XP_011523634.1:p.Glu958Ter
XM_011525332.3:c.2872G>T	XP_011523634.1:p.Glu958Ter
XM_011525333.1:c.2872G>T	XP_011523635.1:p.Glu958Ter
XM_011525333.3:c.2872G>T	XP_011523635.1:p.Glu958Ter
XM_011525334.1:c.2872G>T	XP_011523636.1:p.Glu958Ter
XM_011525334.2:c.2872G>T	XP_011523636.1:p.Glu958Ter
XM_011525335.1:c.2812G>T	XP_011523637.1:p.Glu938Ter
XM_011525335.3:c.2812G>T	XP_011523637.1:p.Glu938Ter
XM_011525336.1:c.2752G>T	XP_011523638.1:p.Glu918Ter
XM_011525336.2:c.2752G>T	XP_011523638.1:p.Glu918Ter
XM_011525337.1:c.2671G>T	XP_011523639.1:p.Glu891Ter
XM_011525337.2:c.2671G>T	XP_011523639.1:p.Glu891Ter
XM_011525338.1:c.2389G>T	XP_011523640.1:p.Glu797Ter
XM_011525338.2:c.2389G>T	XP_011523640.1:p.Glu797Ter
XM_017025200.1:c.2329G>T	XP_016880689.1:p.Glu777Ter
XM_017025201.1:c.2329G>T	XP_016880690.1:p.Glu777Ter
XM_017025202.1:c.958G>T	XP_016880691.1:p.Glu320Ter
XM_017025203.1:c.958G>T	XP_016880692.1:p.Glu320Ter