Canonical Allele Identifier: CA400481529

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685952G>T , CM000679.2:g.61685952G>T	GRCh38
NC_000017.10:g.59763313G>T , CM000679.1:g.59763313G>T	GRCh37
NC_000017.9:g.57118095G>T	NCBI36
NG_007409.2:g.182608C>A , LRG_300:g.182608C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2789C>A MANE Select	NP_114432.2:p.Ser930Ter
ENST00000259008.7:c.2789C>A MANE Select	ENSP00000259008.2:p.Ser930Ter
NM_032043.2:c.2789C>A , LRG_300t1:c.2789C>A	NP_114432.2:p.Ser930Ter
ENST00000259008.6:c.2789C>A	ENSP00000259008.2:p.Ser930Ter
ENST00000577598.5:c.2789C>A	ENSP00000464654.1:p.Ser930Ter
ENST00000682066.1:c.2919C>A	ENSP00000507191.1:n.2919C>A
ENST00000682073.1:n.1529C>A
ENST00000682433.1:n.1868C>A
ENST00000682453.1:c.2789C>A	ENSP00000506943.1:p.Ser930Ter
ENST00000682477.1:c.*2215C>A	ENSP00000507075.1:n.*2215C>A
ENST00000682589.1:n.8666C>A
ENST00000682755.1:c.2567C>A	ENSP00000507660.1:p.Ser856Ter
ENST00000682989.1:c.2610-1812C>A	ENSP00000507786.1:n.2610-1812C>A
ENST00000683039.1:c.2789C>A	ENSP00000508303.1:p.Ser930Ter
ENST00000683235.1:c.*204C>A	ENSP00000507646.1:n.*204C>A
ENST00000683535.1:n.919C>A
ENST00000684471.1:n.1202C>A
ENST00000684584.1:c.2069-1812C>A	ENSP00000508044.1:n.2069-1812C>A
ENST00000684626.1:n.1035C>A
ENST00000684769.1:c.979C>A	ENSP00000507691.1:n.979C>A
XM_011525332.1:c.2849C>A	XP_011523634.1:p.Ser950Ter
XM_011525332.3:c.2849C>A	XP_011523634.1:p.Ser950Ter
XM_011525333.1:c.2849C>A	XP_011523635.1:p.Ser950Ter
XM_011525333.3:c.2849C>A	XP_011523635.1:p.Ser950Ter
XM_011525334.1:c.2849C>A	XP_011523636.1:p.Ser950Ter
XM_011525334.2:c.2849C>A	XP_011523636.1:p.Ser950Ter
XM_011525335.1:c.2789C>A	XP_011523637.1:p.Ser930Ter
XM_011525335.3:c.2789C>A	XP_011523637.1:p.Ser930Ter
XM_011525336.1:c.2729C>A	XP_011523638.1:p.Ser910Ter
XM_011525336.2:c.2729C>A	XP_011523638.1:p.Ser910Ter
XM_011525337.1:c.2648C>A	XP_011523639.1:p.Ser883Ter
XM_011525337.2:c.2648C>A	XP_011523639.1:p.Ser883Ter
XM_011525338.1:c.2366C>A	XP_011523640.1:p.Ser789Ter
XM_011525338.2:c.2366C>A	XP_011523640.1:p.Ser789Ter
XM_017025200.1:c.2306C>A	XP_016880689.1:p.Ser769Ter
XM_017025201.1:c.2306C>A	XP_016880690.1:p.Ser769Ter
XM_017025202.1:c.935C>A	XP_016880691.1:p.Ser312Ter
XM_017025203.1:c.935C>A	XP_016880692.1:p.Ser312Ter