Canonical Allele Identifier: CA292268093

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685965C>T , CM000679.2:g.61685965C>T	GRCh38
NC_000017.10:g.59763326C>T , CM000679.1:g.59763326C>T	GRCh37
NC_000017.9:g.57118108C>T	NCBI36
NG_007409.2:g.182595G>A , LRG_300:g.182595G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2776G>A MANE Select	NP_114432.2:p.Ala926Thr
ENST00000259008.7:c.2776G>A MANE Select	ENSP00000259008.2:p.Ala926Thr
NM_032043.2:c.2776G>A , LRG_300t1:c.2776G>A	NP_114432.2:p.Ala926Thr
ENST00000259008.6:c.2776G>A	ENSP00000259008.2:p.Ala926Thr
ENST00000577598.5:c.2776G>A	ENSP00000464654.1:p.Ala926Thr
ENST00000682066.1:c.2906G>A	ENSP00000507191.1:n.2906G>A
ENST00000682073.1:n.1516G>A
ENST00000682433.1:n.1855G>A
ENST00000682453.1:c.2776G>A	ENSP00000506943.1:p.Ala926Thr
ENST00000682477.1:c.*2202G>A	ENSP00000507075.1:n.*2202G>A
ENST00000682589.1:n.8653G>A
ENST00000682755.1:c.2554G>A	ENSP00000507660.1:p.Ala852Thr
ENST00000682989.1:c.2610-1825G>A	ENSP00000507786.1:n.2610-1825G>A
ENST00000683039.1:c.2776G>A	ENSP00000508303.1:p.Ala926Thr
ENST00000683235.1:c.*191G>A	ENSP00000507646.1:n.*191G>A
ENST00000683535.1:n.906G>A
ENST00000684471.1:n.1189G>A
ENST00000684584.1:c.2069-1825G>A	ENSP00000508044.1:n.2069-1825G>A
ENST00000684626.1:n.1022G>A
ENST00000684769.1:c.966G>A	ENSP00000507691.1:n.966G>A
XM_011525332.1:c.2836G>A	XP_011523634.1:p.Ala946Thr
XM_011525332.3:c.2836G>A	XP_011523634.1:p.Ala946Thr
XM_011525333.1:c.2836G>A	XP_011523635.1:p.Ala946Thr
XM_011525333.3:c.2836G>A	XP_011523635.1:p.Ala946Thr
XM_011525334.1:c.2836G>A	XP_011523636.1:p.Ala946Thr
XM_011525334.2:c.2836G>A	XP_011523636.1:p.Ala946Thr
XM_011525335.1:c.2776G>A	XP_011523637.1:p.Ala926Thr
XM_011525335.3:c.2776G>A	XP_011523637.1:p.Ala926Thr
XM_011525336.1:c.2716G>A	XP_011523638.1:p.Ala906Thr
XM_011525336.2:c.2716G>A	XP_011523638.1:p.Ala906Thr
XM_011525337.1:c.2635G>A	XP_011523639.1:p.Ala879Thr
XM_011525337.2:c.2635G>A	XP_011523639.1:p.Ala879Thr
XM_011525338.1:c.2353G>A	XP_011523640.1:p.Ala785Thr
XM_011525338.2:c.2353G>A	XP_011523640.1:p.Ala785Thr
XM_017025200.1:c.2293G>A	XP_016880689.1:p.Ala765Thr
XM_017025201.1:c.2293G>A	XP_016880690.1:p.Ala765Thr
XM_017025202.1:c.922G>A	XP_016880691.1:p.Ala308Thr
XM_017025203.1:c.922G>A	XP_016880692.1:p.Ala308Thr