Canonical Allele Identifier: CA400478771

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59760988T>G (hg19) ; chr17:g.61683627T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683627T>G , CM000679.2:g.61683627T>G	GRCh38
NC_000017.10:g.59760988T>G , CM000679.1:g.59760988T>G	GRCh37
NC_000017.9:g.57115770T>G	NCBI36
NG_007409.2:g.184933A>C , LRG_300:g.184933A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2159A>C
ENST00000682453.1:c.3419A>C	ENSP00000506943.1:p.Glu1140Ala
ENST00000682477.1:c.*2845A>C	ENSP00000507075.1:n.*2845A>C
ENST00000682589.1:n.9296A>C
ENST00000682755.1:c.3197A>C	ENSP00000507660.1:p.Glu1066Ala
ENST00000682989.1:c.*510A>C	ENSP00000507786.1:n.*510A>C
ENST00000683039.1:c.3419A>C	ENSP00000508303.1:p.Glu1140Ala
ENST00000683235.1:c.*834A>C	ENSP00000507646.1:n.*834A>C
ENST00000683535.1:n.1549A>C
ENST00000684584.1:c.2582A>C	ENSP00000508044.1:p.Glu861Ala
ENST00000684626.1:n.1665A>C
ENST00000684769.1:c.1609A>C	ENSP00000507691.1:n.1609A>C
ENST00000259008.7:c.3419A>C MANE Select	ENSP00000259008.2:p.Glu1140Ala
ENST00000259008.6:c.3419A>C	ENSP00000259008.2:p.Glu1140Ala
NM_032043.2:c.3419A>C , LRG_300t1:c.3419A>C	NP_114432.2:p.Glu1140Ala
XM_011525332.1:c.3479A>C	XP_011523634.1:p.Glu1160Ala
XM_011525333.1:c.3479A>C	XP_011523635.1:p.Glu1160Ala
XM_011525334.1:c.3479A>C	XP_011523636.1:p.Glu1160Ala
XM_011525335.1:c.3419A>C	XP_011523637.1:p.Glu1140Ala
XM_011525336.1:c.3359A>C	XP_011523638.1:p.Glu1120Ala
XM_011525337.1:c.3278A>C	XP_011523639.1:p.Glu1093Ala
XM_011525338.1:c.2996A>C	XP_011523640.1:p.Glu999Ala
XM_011525332.3:c.3479A>C	XP_011523634.1:p.Glu1160Ala
XM_011525333.3:c.3479A>C	XP_011523635.1:p.Glu1160Ala
XM_011525334.2:c.3479A>C	XP_011523636.1:p.Glu1160Ala
XM_011525335.3:c.3419A>C	XP_011523637.1:p.Glu1140Ala
XM_011525336.2:c.3359A>C	XP_011523638.1:p.Glu1120Ala
XM_011525337.2:c.3278A>C	XP_011523639.1:p.Glu1093Ala
XM_011525338.2:c.2996A>C	XP_011523640.1:p.Glu999Ala
XM_017025200.1:c.2936A>C	XP_016880689.1:p.Glu979Ala
XM_017025201.1:c.2936A>C	XP_016880690.1:p.Glu979Ala
XM_017025202.1:c.1565A>C	XP_016880691.1:p.Glu522Ala
XM_017025203.1:c.1565A>C	XP_016880692.1:p.Glu522Ala
NM_032043.3:c.3419A>C MANE Select	NP_114432.2:p.Glu1140Ala