Canonical Allele Identifier: CA501143329

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61684133T>C , CM000679.2:g.61684133T>C	GRCh38
NC_000017.10:g.59761494T>C , CM000679.1:g.59761494T>C	GRCh37
NC_000017.9:g.57116276T>C	NCBI36
NG_007409.2:g.184427A>G , LRG_300:g.184427A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2913A>G MANE Select	NP_114432.2:p.Pro971=
ENST00000259008.7:c.2913A>G MANE Select	ENSP00000259008.2:p.Pro971=
NM_032043.2:c.2913A>G , LRG_300t1:c.2913A>G	NP_114432.2:p.Pro971=
ENST00000259008.6:c.2913A>G	ENSP00000259008.2:p.Pro971=
ENST00000682073.1:n.1653A>G
ENST00000682453.1:c.2913A>G	ENSP00000506943.1:p.Pro971=
ENST00000682477.1:c.*2339A>G	ENSP00000507075.1:n.*2339A>G
ENST00000682589.1:n.8790A>G
ENST00000682755.1:c.2691A>G	ENSP00000507660.1:p.Pro897=
ENST00000682989.1:c.*4A>G	ENSP00000507786.1:n.*4A>G
ENST00000683039.1:c.2913A>G	ENSP00000508303.1:p.Pro971=
ENST00000683235.1:c.*328A>G	ENSP00000507646.1:n.*328A>G
ENST00000683535.1:n.1043A>G
ENST00000684584.1:c.2076A>G	ENSP00000508044.1:p.Pro692=
ENST00000684626.1:n.1159A>G
ENST00000684769.1:c.1103A>G	ENSP00000507691.1:n.1103A>G
XM_011525332.1:c.2973A>G	XP_011523634.1:p.Pro991=
XM_011525332.3:c.2973A>G	XP_011523634.1:p.Pro991=
XM_011525333.1:c.2973A>G	XP_011523635.1:p.Pro991=
XM_011525333.3:c.2973A>G	XP_011523635.1:p.Pro991=
XM_011525334.1:c.2973A>G	XP_011523636.1:p.Pro991=
XM_011525334.2:c.2973A>G	XP_011523636.1:p.Pro991=
XM_011525335.1:c.2913A>G	XP_011523637.1:p.Pro971=
XM_011525335.3:c.2913A>G	XP_011523637.1:p.Pro971=
XM_011525336.1:c.2853A>G	XP_011523638.1:p.Pro951=
XM_011525336.2:c.2853A>G	XP_011523638.1:p.Pro951=
XM_011525337.1:c.2772A>G	XP_011523639.1:p.Pro924=
XM_011525337.2:c.2772A>G	XP_011523639.1:p.Pro924=
XM_011525338.1:c.2490A>G	XP_011523640.1:p.Pro830=
XM_011525338.2:c.2490A>G	XP_011523640.1:p.Pro830=
XM_017025200.1:c.2430A>G	XP_016880689.1:p.Pro810=
XM_017025201.1:c.2430A>G	XP_016880690.1:p.Pro810=
XM_017025202.1:c.1059A>G	XP_016880691.1:p.Pro353=
XM_017025203.1:c.1059A>G	XP_016880692.1:p.Pro353=