Canonical Allele Identifier: CA2733820984
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683277G>C , CM000679.2:g.61683277G>C GRCh38
NC_000017.10:g.59760638G>C , CM000679.1:g.59760638G>C GRCh37
NC_000017.9:g.57115420G>C NCBI36
NG_007409.2:g.185283C>G , LRG_300:g.185283C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2509C>G
ENST00000682453.1:c.*19C>G ENSP00000506943.1:n.*19C>G
ENST00000682477.1:c.*3195C>G ENSP00000507075.1:n.*3195C>G
ENST00000682589.1:n.9646C>G
ENST00000682755.1:c.*19C>G ENSP00000507660.1:n.*19C>G
ENST00000682989.1:c.*860C>G ENSP00000507786.1:n.*860C>G
ENST00000683039.1:c.*19C>G ENSP00000508303.1:n.*19C>G
ENST00000683235.1:c.*1184C>G ENSP00000507646.1:n.*1184C>G
ENST00000683535.1:n.1899C>G
ENST00000684584.1:c.2932C>G ENSP00000508044.1:n.2932C>G
ENST00000684626.1:n.2015C>G
ENST00000684769.1:c.1959C>G ENSP00000507691.1:n.1959C>G
ENST00000259008.7:c.*19C>G MANE Select ENSP00000259008.2:n.*19C>G
ENST00000259008.6:c.*19C>G ENSP00000259008.2:n.*19C>G
NM_032043.2:c.*19C>G , LRG_300t1:c.*19C>G NP_114432.2:n.*19C>G
XM_011525332.1:c.*19C>G XP_011523634.1:n.*19C>G
XM_011525333.1:c.*19C>G XP_011523635.1:n.*19C>G
XM_011525334.1:c.*19C>G XP_011523636.1:n.*19C>G
XM_011525335.1:c.*19C>G XP_011523637.1:n.*19C>G
XM_011525336.1:c.*19C>G XP_011523638.1:n.*19C>G
XM_011525337.1:c.*19C>G XP_011523639.1:n.*19C>G
XM_011525338.1:c.*19C>G XP_011523640.1:n.*19C>G
XM_011525332.3:c.*19C>G XP_011523634.1:n.*19C>G
XM_011525333.3:c.*19C>G XP_011523635.1:n.*19C>G
XM_011525334.2:c.*19C>G XP_011523636.1:n.*19C>G
XM_011525335.3:c.*19C>G XP_011523637.1:n.*19C>G
XM_011525336.2:c.*19C>G XP_011523638.1:n.*19C>G
XM_011525337.2:c.*19C>G XP_011523639.1:n.*19C>G
XM_011525338.2:c.*19C>G XP_011523640.1:n.*19C>G
XM_017025200.1:c.*19C>G XP_016880689.1:n.*19C>G
XM_017025201.1:c.*19C>G XP_016880690.1:n.*19C>G
XM_017025202.1:c.*19C>G XP_016880691.1:n.*19C>G
XM_017025203.1:c.*19C>G XP_016880692.1:n.*19C>G
NM_032043.3:c.*19C>G MANE Select NP_114432.2:n.*19C>G