Canonical Allele Identifier: CA2269131052
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683876T= , CM000679.2:g.61683876T= GRCh38
NC_000017.10:g.59761237T= , CM000679.1:g.59761237T= GRCh37
NC_000017.9:g.57116019T= NCBI36
NG_007409.2:g.184684A= , LRG_300:g.184684A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1910A=
ENST00000682453.1:c.3170A= ENSP00000506943.1:p.Asn1057=
ENST00000682477.1:c.*2596A= ENSP00000507075.1:n.*2596A=
ENST00000682589.1:n.9047A=
ENST00000682755.1:c.2948A= ENSP00000507660.1:p.Asn983=
ENST00000682989.1:c.*261A= ENSP00000507786.1:n.*261A=
ENST00000683039.1:c.3170A= ENSP00000508303.1:p.Asn1057=
ENST00000683235.1:c.*585A= ENSP00000507646.1:n.*585A=
ENST00000683535.1:n.1300A=
ENST00000684584.1:c.2333A= ENSP00000508044.1:p.Asn778=
ENST00000684626.1:n.1416A=
ENST00000684769.1:c.1360A= ENSP00000507691.1:n.1360A=
ENST00000259008.7:c.3170A= MANE Select ENSP00000259008.2:p.Asn1057=
ENST00000259008.6:c.3170A= ENSP00000259008.2:p.Asn1057=
NM_032043.2:c.3170A= , LRG_300t1:c.3170A= NP_114432.2:p.Asn1057=
XM_011525332.1:c.3230A= XP_011523634.1:p.Asn1077=
XM_011525333.1:c.3230A= XP_011523635.1:p.Asn1077=
XM_011525334.1:c.3230A= XP_011523636.1:p.Asn1077=
XM_011525335.1:c.3170A= XP_011523637.1:p.Asn1057=
XM_011525336.1:c.3110A= XP_011523638.1:p.Asn1037=
XM_011525337.1:c.3029A= XP_011523639.1:p.Asn1010=
XM_011525338.1:c.2747A= XP_011523640.1:p.Asn916=
XM_011525332.3:c.3230A= XP_011523634.1:p.Asn1077=
XM_011525333.3:c.3230A= XP_011523635.1:p.Asn1077=
XM_011525334.2:c.3230A= XP_011523636.1:p.Asn1077=
XM_011525335.3:c.3170A= XP_011523637.1:p.Asn1057=
XM_011525336.2:c.3110A= XP_011523638.1:p.Asn1037=
XM_011525337.2:c.3029A= XP_011523639.1:p.Asn1010=
XM_011525338.2:c.2747A= XP_011523640.1:p.Asn916=
XM_017025200.1:c.2687A= XP_016880689.1:p.Asn896=
XM_017025201.1:c.2687A= XP_016880690.1:p.Asn896=
XM_017025202.1:c.1316A= XP_016880691.1:p.Asn439=
XM_017025203.1:c.1316A= XP_016880692.1:p.Asn439=
NM_032043.3:c.3170A= MANE Select NP_114432.2:p.Asn1057=