Canonical Allele Identifier: CA2269131051
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683875A= , CM000679.2:g.61683875A= GRCh38
NC_000017.10:g.59761236A= , CM000679.1:g.59761236A= GRCh37
NC_000017.9:g.57116018A= NCBI36
NG_007409.2:g.184685T= , LRG_300:g.184685T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1911T=
ENST00000682453.1:c.3171T= ENSP00000506943.1:p.Asn1057=
ENST00000682477.1:c.*2597T= ENSP00000507075.1:n.*2597T=
ENST00000682589.1:n.9048T=
ENST00000682755.1:c.2949T= ENSP00000507660.1:p.Asn983=
ENST00000682989.1:c.*262T= ENSP00000507786.1:n.*262T=
ENST00000683039.1:c.3171T= ENSP00000508303.1:p.Asn1057=
ENST00000683235.1:c.*586T= ENSP00000507646.1:n.*586T=
ENST00000683535.1:n.1301T=
ENST00000684584.1:c.2334T= ENSP00000508044.1:p.Asn778=
ENST00000684626.1:n.1417T=
ENST00000684769.1:c.1361T= ENSP00000507691.1:n.1361T=
ENST00000259008.7:c.3171T= MANE Select ENSP00000259008.2:p.Asn1057=
ENST00000259008.6:c.3171T= ENSP00000259008.2:p.Asn1057=
NM_032043.2:c.3171T= , LRG_300t1:c.3171T= NP_114432.2:p.Asn1057=
XM_011525332.1:c.3231T= XP_011523634.1:p.Asn1077=
XM_011525333.1:c.3231T= XP_011523635.1:p.Asn1077=
XM_011525334.1:c.3231T= XP_011523636.1:p.Asn1077=
XM_011525335.1:c.3171T= XP_011523637.1:p.Asn1057=
XM_011525336.1:c.3111T= XP_011523638.1:p.Asn1037=
XM_011525337.1:c.3030T= XP_011523639.1:p.Asn1010=
XM_011525338.1:c.2748T= XP_011523640.1:p.Asn916=
XM_011525332.3:c.3231T= XP_011523634.1:p.Asn1077=
XM_011525333.3:c.3231T= XP_011523635.1:p.Asn1077=
XM_011525334.2:c.3231T= XP_011523636.1:p.Asn1077=
XM_011525335.3:c.3171T= XP_011523637.1:p.Asn1057=
XM_011525336.2:c.3111T= XP_011523638.1:p.Asn1037=
XM_011525337.2:c.3030T= XP_011523639.1:p.Asn1010=
XM_011525338.2:c.2748T= XP_011523640.1:p.Asn916=
XM_017025200.1:c.2688T= XP_016880689.1:p.Asn896=
XM_017025201.1:c.2688T= XP_016880690.1:p.Asn896=
XM_017025202.1:c.1317T= XP_016880691.1:p.Asn439=
XM_017025203.1:c.1317T= XP_016880692.1:p.Asn439=
NM_032043.3:c.3171T= MANE Select NP_114432.2:p.Asn1057=