Canonical Allele Identifier: CA8690423
Community Standard Title: NM_032043.3(BRIP1):c.2906-1G>A
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61684141C>T , CM000679.2:g.61684141C>T GRCh38
NC_000017.10:g.59761502C>T , CM000679.1:g.59761502C>T GRCh37
NC_000017.9:g.57116284C>T NCBI36
NG_007409.2:g.184419G>A , LRG_300:g.184419G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.2906-1G>A MANE Select NP_114432.2:n.2906-1G>A
ENST00000259008.7:c.2906-1G>A MANE Select ENSP00000259008.2:n.2906-1G>A
NM_032043.2:c.2906-1G>A , LRG_300t1:c.2906-1G>A NP_114432.2:n.2906-1G>A
ENST00000259008.6:c.2906-1G>A ENSP00000259008.2:n.2906-1G>A
ENST00000682073.1:n.1646-1G>A
ENST00000682453.1:c.2906-1G>A ENSP00000506943.1:n.2906-1G>A
ENST00000682477.1:c.*2332-1G>A ENSP00000507075.1:n.*2332-1G>A
ENST00000682589.1:n.8783-1G>A
ENST00000682755.1:c.2684-1G>A ENSP00000507660.1:n.2684-1G>A
ENST00000682989.1:c.2610-1G>A ENSP00000507786.1:n.2610-1G>A
ENST00000683039.1:c.2906-1G>A ENSP00000508303.1:n.2906-1G>A
ENST00000683235.1:c.*321-1G>A ENSP00000507646.1:n.*321-1G>A
ENST00000683535.1:n.1036-1G>A
ENST00000684584.1:c.2069-1G>A ENSP00000508044.1:n.2069-1G>A
ENST00000684626.1:n.1152-1G>A
ENST00000684769.1:c.1096-1G>A ENSP00000507691.1:n.1096-1G>A
XM_011525332.1:c.2966-1G>A XP_011523634.1:n.2966-1G>A
XM_011525332.3:c.2966-1G>A XP_011523634.1:n.2966-1G>A
XM_011525333.1:c.2966-1G>A XP_011523635.1:n.2966-1G>A
XM_011525333.3:c.2966-1G>A XP_011523635.1:n.2966-1G>A
XM_011525334.1:c.2966-1G>A XP_011523636.1:n.2966-1G>A
XM_011525334.2:c.2966-1G>A XP_011523636.1:n.2966-1G>A
XM_011525335.1:c.2906-1G>A XP_011523637.1:n.2906-1G>A
XM_011525335.3:c.2906-1G>A XP_011523637.1:n.2906-1G>A
XM_011525336.1:c.2846-1G>A XP_011523638.1:n.2846-1G>A
XM_011525336.2:c.2846-1G>A XP_011523638.1:n.2846-1G>A
XM_011525337.1:c.2765-1G>A XP_011523639.1:n.2765-1G>A
XM_011525337.2:c.2765-1G>A XP_011523639.1:n.2765-1G>A
XM_011525338.1:c.2483-1G>A XP_011523640.1:n.2483-1G>A
XM_011525338.2:c.2483-1G>A XP_011523640.1:n.2483-1G>A
XM_017025200.1:c.2423-1G>A XP_016880689.1:n.2423-1G>A
XM_017025201.1:c.2423-1G>A XP_016880690.1:n.2423-1G>A
XM_017025202.1:c.1052-1G>A XP_016880691.1:n.1052-1G>A
XM_017025203.1:c.1052-1G>A XP_016880692.1:n.1052-1G>A