Canonical Allele Identifier: CA8690617
Community Standard Title: NM_032043.3(BRIP1):c.1951A>G (p.Ile651Val)
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61776547T>C , CM000679.2:g.61776547T>C GRCh38
NC_000017.10:g.59853908T>C , CM000679.1:g.59853908T>C GRCh37
NC_000017.9:g.57208690T>C NCBI36
NG_007409.2:g.92013A>G , LRG_300:g.92013A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.1951A>G MANE Select NP_114432.2:p.Ile651Val
ENST00000259008.7:c.1951A>G MANE Select ENSP00000259008.2:p.Ile651Val
NM_032043.2:c.1951A>G , LRG_300t1:c.1951A>G NP_114432.2:p.Ile651Val
ENST00000259008.6:c.1951A>G ENSP00000259008.2:p.Ile651Val
ENST00000577598.5:c.1951A>G ENSP00000464654.1:p.Ile651Val
ENST00000579028.1:c.644A>G
ENST00000579028.2:c.1533A>G ENSP00000463827.2:n.1533A>G
ENST00000583837.5:n.33A>G
ENST00000584322.2:c.1951A>G ENSP00000463272.2:p.Ile651Val
ENST00000682066.1:c.1444A>G ENSP00000507191.1:p.Ile482Val
ENST00000682073.1:n.691A>G
ENST00000682433.1:n.1030A>G
ENST00000682453.1:c.1951A>G ENSP00000506943.1:p.Ile651Val
ENST00000682477.1:c.*1377A>G ENSP00000507075.1:n.*1377A>G
ENST00000682589.1:n.7828A>G
ENST00000682611.1:c.1610A>G ENSP00000508326.1:n.1610A>G
ENST00000682755.1:c.1729A>G ENSP00000507660.1:p.Ile577Val
ENST00000682989.1:c.1951A>G ENSP00000507786.1:p.Ile651Val
ENST00000683039.1:c.1951A>G ENSP00000508303.1:p.Ile651Val
ENST00000683235.1:c.1951A>G ENSP00000507646.1:p.Ile651Val
ENST00000683381.1:c.2011A>G ENSP00000508184.1:p.Ile671Val
ENST00000683535.1:n.81A>G
ENST00000684471.1:n.409-45A>G
ENST00000684584.1:c.1444A>G ENSP00000508044.1:p.Ile482Val
ENST00000684769.1:c.16A>G ENSP00000507691.1:p.Ile6Val
XM_011525332.1:c.2011A>G XP_011523634.1:p.Ile671Val
XM_011525332.3:c.2011A>G XP_011523634.1:p.Ile671Val
XM_011525333.1:c.2011A>G XP_011523635.1:p.Ile671Val
XM_011525333.3:c.2011A>G XP_011523635.1:p.Ile671Val
XM_011525334.1:c.2011A>G XP_011523636.1:p.Ile671Val
XM_011525334.2:c.2011A>G XP_011523636.1:p.Ile671Val
XM_011525335.1:c.1996-45A>G XP_011523637.1:n.1996-45A>G
XM_011525335.3:c.1996-45A>G XP_011523637.1:n.1996-45A>G
XM_011525336.1:c.1936-45A>G XP_011523638.1:n.1936-45A>G
XM_011525336.2:c.1936-45A>G XP_011523638.1:n.1936-45A>G
XM_011525337.1:c.1810A>G XP_011523639.1:p.Ile604Val
XM_011525337.2:c.1810A>G XP_011523639.1:p.Ile604Val
XM_011525338.1:c.1528A>G XP_011523640.1:p.Ile510Val
XM_011525338.2:c.1528A>G XP_011523640.1:p.Ile510Val
XM_011525339.1:c.2011A>G XP_011523641.1:p.Ile671Val
XM_011525339.3:c.2011A>G XP_011523641.1:p.Ile671Val
XM_011525340.1:c.2011A>G XP_011523642.1:p.Ile671Val
XM_011525340.3:c.2011A>G XP_011523642.1:p.Ile671Val
XM_017025200.1:c.1468A>G XP_016880689.1:p.Ile490Val
XM_017025201.1:c.1468A>G XP_016880690.1:p.Ile490Val
XM_017025202.1:c.97A>G XP_016880691.1:p.Ile33Val
XM_017025203.1:c.97A>G XP_016880692.1:p.Ile33Val