Canonical Allele Identifier: CA400481827

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61686076G>A , CM000679.2:g.61686076G>A	GRCh38
NC_000017.10:g.59763437G>A , CM000679.1:g.59763437G>A	GRCh37
NC_000017.9:g.57118219G>A	NCBI36
NG_007409.2:g.182484C>T , LRG_300:g.182484C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2665C>T MANE Select	NP_114432.2:p.Gln889Ter
ENST00000259008.7:c.2665C>T MANE Select	ENSP00000259008.2:p.Gln889Ter
NM_032043.2:c.2665C>T , LRG_300t1:c.2665C>T	NP_114432.2:p.Gln889Ter
ENST00000259008.6:c.2665C>T	ENSP00000259008.2:p.Gln889Ter
ENST00000577598.5:c.2665C>T	ENSP00000464654.1:p.Gln889Ter
ENST00000682066.1:c.2795C>T	ENSP00000507191.1:n.2795C>T
ENST00000682073.1:n.1405C>T
ENST00000682433.1:n.1744C>T
ENST00000682453.1:c.2665C>T	ENSP00000506943.1:p.Gln889Ter
ENST00000682477.1:c.*2091C>T	ENSP00000507075.1:n.*2091C>T
ENST00000682589.1:n.8542C>T
ENST00000682755.1:c.2443C>T	ENSP00000507660.1:p.Gln815Ter
ENST00000682989.1:c.2610-1936C>T	ENSP00000507786.1:n.2610-1936C>T
ENST00000683039.1:c.2665C>T	ENSP00000508303.1:p.Gln889Ter
ENST00000683235.1:c.*80C>T	ENSP00000507646.1:n.*80C>T
ENST00000683535.1:n.795C>T
ENST00000684471.1:n.1078C>T
ENST00000684584.1:c.2069-1936C>T	ENSP00000508044.1:n.2069-1936C>T
ENST00000684626.1:n.911C>T
ENST00000684769.1:c.855C>T	ENSP00000507691.1:n.855C>T
XM_011525332.1:c.2725C>T	XP_011523634.1:p.Gln909Ter
XM_011525332.3:c.2725C>T	XP_011523634.1:p.Gln909Ter
XM_011525333.1:c.2725C>T	XP_011523635.1:p.Gln909Ter
XM_011525333.3:c.2725C>T	XP_011523635.1:p.Gln909Ter
XM_011525334.1:c.2725C>T	XP_011523636.1:p.Gln909Ter
XM_011525334.2:c.2725C>T	XP_011523636.1:p.Gln909Ter
XM_011525335.1:c.2665C>T	XP_011523637.1:p.Gln889Ter
XM_011525335.3:c.2665C>T	XP_011523637.1:p.Gln889Ter
XM_011525336.1:c.2605C>T	XP_011523638.1:p.Gln869Ter
XM_011525336.2:c.2605C>T	XP_011523638.1:p.Gln869Ter
XM_011525337.1:c.2524C>T	XP_011523639.1:p.Gln842Ter
XM_011525337.2:c.2524C>T	XP_011523639.1:p.Gln842Ter
XM_011525338.1:c.2242C>T	XP_011523640.1:p.Gln748Ter
XM_011525338.2:c.2242C>T	XP_011523640.1:p.Gln748Ter
XM_011525340.1:c.*80C>T	XP_011523642.1:n.*80C>T
XM_011525340.3:c.*80C>T	XP_011523642.1:n.*80C>T
XM_017025200.1:c.2182C>T	XP_016880689.1:p.Gln728Ter
XM_017025201.1:c.2182C>T	XP_016880690.1:p.Gln728Ter
XM_017025202.1:c.811C>T	XP_016880691.1:p.Gln271Ter
XM_017025203.1:c.811C>T	XP_016880692.1:p.Gln271Ter