Canonical Allele Identifier: CA400481497

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685937A>G , CM000679.2:g.61685937A>G	GRCh38
NC_000017.10:g.59763298A>G , CM000679.1:g.59763298A>G	GRCh37
NC_000017.9:g.57118080A>G	NCBI36
NG_007409.2:g.182623T>C , LRG_300:g.182623T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2804T>C MANE Select	NP_114432.2:p.Val935Ala
ENST00000259008.7:c.2804T>C MANE Select	ENSP00000259008.2:p.Val935Ala
NM_032043.2:c.2804T>C , LRG_300t1:c.2804T>C	NP_114432.2:p.Val935Ala
ENST00000259008.6:c.2804T>C	ENSP00000259008.2:p.Val935Ala
ENST00000577598.5:c.2804T>C	ENSP00000464654.1:p.Val935Ala
ENST00000682066.1:c.2934T>C	ENSP00000507191.1:n.2934T>C
ENST00000682073.1:n.1544T>C
ENST00000682433.1:n.1883T>C
ENST00000682453.1:c.2804T>C	ENSP00000506943.1:p.Val935Ala
ENST00000682477.1:c.*2230T>C	ENSP00000507075.1:n.*2230T>C
ENST00000682589.1:n.8681T>C
ENST00000682755.1:c.2582T>C	ENSP00000507660.1:p.Val861Ala
ENST00000682989.1:c.2610-1797T>C	ENSP00000507786.1:n.2610-1797T>C
ENST00000683039.1:c.2804T>C	ENSP00000508303.1:p.Val935Ala
ENST00000683235.1:c.*219T>C	ENSP00000507646.1:n.*219T>C
ENST00000683535.1:n.934T>C
ENST00000684471.1:n.1217T>C
ENST00000684584.1:c.2069-1797T>C	ENSP00000508044.1:n.2069-1797T>C
ENST00000684626.1:n.1050T>C
ENST00000684769.1:c.994T>C	ENSP00000507691.1:n.994T>C
XM_011525332.1:c.2864T>C	XP_011523634.1:p.Val955Ala
XM_011525332.3:c.2864T>C	XP_011523634.1:p.Val955Ala
XM_011525333.1:c.2864T>C	XP_011523635.1:p.Val955Ala
XM_011525333.3:c.2864T>C	XP_011523635.1:p.Val955Ala
XM_011525334.1:c.2864T>C	XP_011523636.1:p.Val955Ala
XM_011525334.2:c.2864T>C	XP_011523636.1:p.Val955Ala
XM_011525335.1:c.2804T>C	XP_011523637.1:p.Val935Ala
XM_011525335.3:c.2804T>C	XP_011523637.1:p.Val935Ala
XM_011525336.1:c.2744T>C	XP_011523638.1:p.Val915Ala
XM_011525336.2:c.2744T>C	XP_011523638.1:p.Val915Ala
XM_011525337.1:c.2663T>C	XP_011523639.1:p.Val888Ala
XM_011525337.2:c.2663T>C	XP_011523639.1:p.Val888Ala
XM_011525338.1:c.2381T>C	XP_011523640.1:p.Val794Ala
XM_011525338.2:c.2381T>C	XP_011523640.1:p.Val794Ala
XM_017025200.1:c.2321T>C	XP_016880689.1:p.Val774Ala
XM_017025201.1:c.2321T>C	XP_016880690.1:p.Val774Ala
XM_017025202.1:c.950T>C	XP_016880691.1:p.Val317Ala
XM_017025203.1:c.950T>C	XP_016880692.1:p.Val317Ala