Canonical Allele Identifier: CA400481936

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61686126G>T , CM000679.2:g.61686126G>T	GRCh38
NC_000017.10:g.59763487G>T , CM000679.1:g.59763487G>T	GRCh37
NC_000017.9:g.57118269G>T	NCBI36
NG_007409.2:g.182434C>A , LRG_300:g.182434C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2615C>A MANE Select	NP_114432.2:p.Ser872Ter
ENST00000259008.7:c.2615C>A MANE Select	ENSP00000259008.2:p.Ser872Ter
NM_032043.2:c.2615C>A , LRG_300t1:c.2615C>A	NP_114432.2:p.Ser872Ter
ENST00000259008.6:c.2615C>A	ENSP00000259008.2:p.Ser872Ter
ENST00000577598.5:c.2615C>A	ENSP00000464654.1:p.Ser872Ter
ENST00000682066.1:c.2745C>A	ENSP00000507191.1:n.2745C>A
ENST00000682073.1:n.1355C>A
ENST00000682433.1:n.1694C>A
ENST00000682453.1:c.2615C>A	ENSP00000506943.1:p.Ser872Ter
ENST00000682477.1:c.*2041C>A	ENSP00000507075.1:n.*2041C>A
ENST00000682589.1:n.8492C>A
ENST00000682755.1:c.2393C>A	ENSP00000507660.1:p.Ser798Ter
ENST00000682989.1:c.2610-1986C>A	ENSP00000507786.1:n.2610-1986C>A
ENST00000683039.1:c.2615C>A	ENSP00000508303.1:p.Ser872Ter
ENST00000683235.1:c.*30C>A	ENSP00000507646.1:n.*30C>A
ENST00000683535.1:n.745C>A
ENST00000684471.1:n.1028C>A
ENST00000684584.1:c.2069-1986C>A	ENSP00000508044.1:n.2069-1986C>A
ENST00000684626.1:n.861C>A
ENST00000684769.1:c.805C>A	ENSP00000507691.1:n.805C>A
XM_011525332.1:c.2675C>A	XP_011523634.1:p.Ser892Ter
XM_011525332.3:c.2675C>A	XP_011523634.1:p.Ser892Ter
XM_011525333.1:c.2675C>A	XP_011523635.1:p.Ser892Ter
XM_011525333.3:c.2675C>A	XP_011523635.1:p.Ser892Ter
XM_011525334.1:c.2675C>A	XP_011523636.1:p.Ser892Ter
XM_011525334.2:c.2675C>A	XP_011523636.1:p.Ser892Ter
XM_011525335.1:c.2615C>A	XP_011523637.1:p.Ser872Ter
XM_011525335.3:c.2615C>A	XP_011523637.1:p.Ser872Ter
XM_011525336.1:c.2555C>A	XP_011523638.1:p.Ser852Ter
XM_011525336.2:c.2555C>A	XP_011523638.1:p.Ser852Ter
XM_011525337.1:c.2474C>A	XP_011523639.1:p.Ser825Ter
XM_011525337.2:c.2474C>A	XP_011523639.1:p.Ser825Ter
XM_011525338.1:c.2192C>A	XP_011523640.1:p.Ser731Ter
XM_011525338.2:c.2192C>A	XP_011523640.1:p.Ser731Ter
XM_011525340.1:c.*30C>A	XP_011523642.1:n.*30C>A
XM_011525340.3:c.*30C>A	XP_011523642.1:n.*30C>A
XM_017025200.1:c.2132C>A	XP_016880689.1:p.Ser711Ter
XM_017025201.1:c.2132C>A	XP_016880690.1:p.Ser711Ter
XM_017025202.1:c.761C>A	XP_016880691.1:p.Ser254Ter
XM_017025203.1:c.761C>A	XP_016880692.1:p.Ser254Ter