Canonical Allele Identifier: CA773770654
Community Standard Title: NM_032043.3(BRIP1):c.2906-7T>C
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61684147A>G , CM000679.2:g.61684147A>G GRCh38
NC_000017.10:g.59761508A>G , CM000679.1:g.59761508A>G GRCh37
NC_000017.9:g.57116290A>G NCBI36
NG_007409.2:g.184413T>C , LRG_300:g.184413T>C

Transcript Alleles

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