Canonical Allele Identifier: CA400481094

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685836T>G , CM000679.2:g.61685836T>G	GRCh38
NC_000017.10:g.59763197T>G , CM000679.1:g.59763197T>G	GRCh37
NC_000017.9:g.57117979T>G	NCBI36
NG_007409.2:g.182724A>C , LRG_300:g.182724A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2905A>C MANE Select	NP_114432.2:p.Asn969His
ENST00000259008.7:c.2905A>C MANE Select	ENSP00000259008.2:p.Asn969His
NM_032043.2:c.2905A>C , LRG_300t1:c.2905A>C	NP_114432.2:p.Asn969His
ENST00000259008.6:c.2905A>C	ENSP00000259008.2:p.Asn969His
ENST00000577598.5:c.2905A>C	ENSP00000464654.1:p.Ser969Arg
ENST00000682066.1:c.3035A>C	ENSP00000507191.1:n.3035A>C
ENST00000682073.1:n.1645A>C
ENST00000682433.1:n.1984A>C
ENST00000682453.1:c.2905A>C	ENSP00000506943.1:p.Asn969His
ENST00000682477.1:c.*2331A>C	ENSP00000507075.1:n.*2331A>C
ENST00000682589.1:n.8782A>C
ENST00000682755.1:c.2683A>C	ENSP00000507660.1:p.Asn895His
ENST00000682989.1:c.2610-1696A>C	ENSP00000507786.1:n.2610-1696A>C
ENST00000683039.1:c.2905A>C	ENSP00000508303.1:p.Asn969His
ENST00000683235.1:c.*320A>C	ENSP00000507646.1:n.*320A>C
ENST00000683535.1:n.1035A>C
ENST00000684471.1:n.1318A>C
ENST00000684584.1:c.2069-1696A>C	ENSP00000508044.1:n.2069-1696A>C
ENST00000684626.1:n.1151A>C
ENST00000684769.1:c.1095A>C	ENSP00000507691.1:n.1095A>C
XM_011525332.1:c.2965A>C	XP_011523634.1:p.Asn989His
XM_011525332.3:c.2965A>C	XP_011523634.1:p.Asn989His
XM_011525333.1:c.2965A>C	XP_011523635.1:p.Asn989His
XM_011525333.3:c.2965A>C	XP_011523635.1:p.Asn989His
XM_011525334.1:c.2965A>C	XP_011523636.1:p.Asn989His
XM_011525334.2:c.2965A>C	XP_011523636.1:p.Asn989His
XM_011525335.1:c.2905A>C	XP_011523637.1:p.Asn969His
XM_011525335.3:c.2905A>C	XP_011523637.1:p.Asn969His
XM_011525336.1:c.2845A>C	XP_011523638.1:p.Asn949His
XM_011525336.2:c.2845A>C	XP_011523638.1:p.Asn949His
XM_011525337.1:c.2764A>C	XP_011523639.1:p.Asn922His
XM_011525337.2:c.2764A>C	XP_011523639.1:p.Asn922His
XM_011525338.1:c.2482A>C	XP_011523640.1:p.Asn828His
XM_011525338.2:c.2482A>C	XP_011523640.1:p.Asn828His
XM_017025200.1:c.2422A>C	XP_016880689.1:p.Asn808His
XM_017025201.1:c.2422A>C	XP_016880690.1:p.Asn808His
XM_017025202.1:c.1051A>C	XP_016880691.1:p.Asn351His
XM_017025203.1:c.1051A>C	XP_016880692.1:p.Asn351His