Canonical Allele Identifier: CA400482919
Community Standard Title: NM_032043.3(BRIP1):c.2226C>G (p.Tyr742Ter)
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61744463G>C , CM000679.2:g.61744463G>C GRCh38
NC_000017.10:g.59821824G>C , CM000679.1:g.59821824G>C GRCh37
NC_000017.9:g.57176606G>C NCBI36
NG_007409.2:g.124097C>G , LRG_300:g.124097C>G

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.2226C>G MANE Select NP_114432.2:p.Tyr742Ter
ENST00000259008.7:c.2226C>G MANE Select ENSP00000259008.2:p.Tyr742Ter
NM_032043.2:c.2226C>G , LRG_300t1:c.2226C>G NP_114432.2:p.Tyr742Ter
ENST00000259008.6:c.2226C>G ENSP00000259008.2:p.Tyr742Ter
ENST00000577598.5:c.2226C>G ENSP00000464654.1:p.Tyr742Ter
ENST00000579028.2:c.1808C>G ENSP00000463827.2:n.1808C>G
ENST00000584322.1:c.209C>G
ENST00000584322.2:c.2226C>G ENSP00000463272.2:p.Tyr742Ter
ENST00000682066.1:c.2356C>G ENSP00000507191.1:n.2356C>G
ENST00000682073.1:n.966C>G
ENST00000682433.1:n.1305C>G
ENST00000682453.1:c.2226C>G ENSP00000506943.1:p.Tyr742Ter
ENST00000682477.1:c.*1652C>G ENSP00000507075.1:n.*1652C>G
ENST00000682589.1:n.8103C>G
ENST00000682755.1:c.2004C>G ENSP00000507660.1:p.Tyr668Ter
ENST00000682989.1:c.2226C>G ENSP00000507786.1:p.Tyr742Ter
ENST00000683039.1:c.2226C>G ENSP00000508303.1:p.Tyr742Ter
ENST00000683235.1:c.2226C>G ENSP00000507646.1:p.Tyr742Ter
ENST00000683381.1:c.2286C>G ENSP00000508184.1:p.Tyr762Ter
ENST00000683535.1:n.356C>G
ENST00000684471.1:n.639C>G
ENST00000684584.1:c.1719C>G ENSP00000508044.1:p.Tyr573Ter
ENST00000684769.1:c.291C>G ENSP00000507691.1:p.Tyr97Ter
XM_011525332.1:c.2286C>G XP_011523634.1:p.Tyr762Ter
XM_011525332.3:c.2286C>G XP_011523634.1:p.Tyr762Ter
XM_011525333.1:c.2286C>G XP_011523635.1:p.Tyr762Ter
XM_011525333.3:c.2286C>G XP_011523635.1:p.Tyr762Ter
XM_011525334.1:c.2286C>G XP_011523636.1:p.Tyr762Ter
XM_011525334.2:c.2286C>G XP_011523636.1:p.Tyr762Ter
XM_011525335.1:c.2226C>G XP_011523637.1:p.Tyr742Ter
XM_011525335.3:c.2226C>G XP_011523637.1:p.Tyr742Ter
XM_011525336.1:c.2166C>G XP_011523638.1:p.Tyr722Ter
XM_011525336.2:c.2166C>G XP_011523638.1:p.Tyr722Ter
XM_011525337.1:c.2085C>G XP_011523639.1:p.Tyr695Ter
XM_011525337.2:c.2085C>G XP_011523639.1:p.Tyr695Ter
XM_011525338.1:c.1803C>G XP_011523640.1:p.Tyr601Ter
XM_011525338.2:c.1803C>G XP_011523640.1:p.Tyr601Ter
XM_011525339.1:c.2286C>G XP_011523641.1:p.Tyr762Ter
XM_011525339.3:c.2286C>G XP_011523641.1:p.Tyr762Ter
XM_011525340.1:c.2286C>G XP_011523642.1:p.Tyr762Ter
XM_011525340.3:c.2286C>G XP_011523642.1:p.Tyr762Ter
XM_017025200.1:c.1743C>G XP_016880689.1:p.Tyr581Ter
XM_017025201.1:c.1743C>G XP_016880690.1:p.Tyr581Ter
XM_017025202.1:c.372C>G XP_016880691.1:p.Tyr124Ter
XM_017025203.1:c.372C>G XP_016880692.1:p.Tyr124Ter