Canonical Allele Identifier: CA400479597

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61716000G>A , CM000679.2:g.61716000G>A	GRCh38
NC_000017.10:g.59793361G>A , CM000679.1:g.59793361G>A	GRCh37
NC_000017.9:g.57148143G>A	NCBI36
NG_007409.2:g.152560C>T , LRG_300:g.152560C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2443C>T MANE Select	NP_114432.2:p.Gln815Ter
ENST00000259008.7:c.2443C>T MANE Select	ENSP00000259008.2:p.Gln815Ter
NM_032043.2:c.2443C>T , LRG_300t1:c.2443C>T	NP_114432.2:p.Gln815Ter
ENST00000259008.6:c.2443C>T	ENSP00000259008.2:p.Gln815Ter
ENST00000577598.5:c.2443C>T	ENSP00000464654.1:p.Gln815Ter
ENST00000682066.1:c.2573C>T	ENSP00000507191.1:n.2573C>T
ENST00000682073.1:n.1183C>T
ENST00000682433.1:n.1522C>T
ENST00000682453.1:c.2443C>T	ENSP00000506943.1:p.Gln815Ter
ENST00000682477.1:c.*1869C>T	ENSP00000507075.1:n.*1869C>T
ENST00000682589.1:n.8320C>T
ENST00000682755.1:c.2221C>T	ENSP00000507660.1:p.Gln741Ter
ENST00000682989.1:c.2443C>T	ENSP00000507786.1:p.Gln815Ter
ENST00000683039.1:c.2443C>T	ENSP00000508303.1:p.Gln815Ter
ENST00000683235.1:c.2443C>T	ENSP00000507646.1:p.Gln815Ter
ENST00000683535.1:n.573C>T
ENST00000684471.1:n.856C>T
ENST00000684584.1:c.1936C>T	ENSP00000508044.1:p.Gln646Ter
ENST00000684626.1:n.772C>T
ENST00000684769.1:c.508C>T	ENSP00000507691.1:p.Gln170Ter
XM_011525332.1:c.2503C>T	XP_011523634.1:p.Gln835Ter
XM_011525332.3:c.2503C>T	XP_011523634.1:p.Gln835Ter
XM_011525333.1:c.2503C>T	XP_011523635.1:p.Gln835Ter
XM_011525333.3:c.2503C>T	XP_011523635.1:p.Gln835Ter
XM_011525334.1:c.2503C>T	XP_011523636.1:p.Gln835Ter
XM_011525334.2:c.2503C>T	XP_011523636.1:p.Gln835Ter
XM_011525335.1:c.2443C>T	XP_011523637.1:p.Gln815Ter
XM_011525335.3:c.2443C>T	XP_011523637.1:p.Gln815Ter
XM_011525336.1:c.2383C>T	XP_011523638.1:p.Gln795Ter
XM_011525336.2:c.2383C>T	XP_011523638.1:p.Gln795Ter
XM_011525337.1:c.2302C>T	XP_011523639.1:p.Gln768Ter
XM_011525337.2:c.2302C>T	XP_011523639.1:p.Gln768Ter
XM_011525338.1:c.2020C>T	XP_011523640.1:p.Gln674Ter
XM_011525338.2:c.2020C>T	XP_011523640.1:p.Gln674Ter
XM_011525339.1:c.*84C>T	XP_011523641.1:n.*84C>T
XM_011525339.3:c.*84C>T	XP_011523641.1:n.*84C>T
XM_011525340.1:c.2503C>T	XP_011523642.1:p.Gln835Ter
XM_011525340.3:c.2503C>T	XP_011523642.1:p.Gln835Ter
XM_017025200.1:c.1960C>T	XP_016880689.1:p.Gln654Ter
XM_017025201.1:c.1960C>T	XP_016880690.1:p.Gln654Ter
XM_017025202.1:c.589C>T	XP_016880691.1:p.Gln197Ter
XM_017025203.1:c.589C>T	XP_016880692.1:p.Gln197Ter