Canonical Allele Identifier: CA400478366
Community Standard Title: NM_032043.3(BRIP1):c.3536T>G (p.Val1179Gly)
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683510A>C , CM000679.2:g.61683510A>C GRCh38
NC_000017.10:g.59760871A>C , CM000679.1:g.59760871A>C GRCh37
NC_000017.9:g.57115653A>C NCBI36
NG_007409.2:g.185050T>G , LRG_300:g.185050T>G

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.3536T>G MANE Select NP_114432.2:p.Val1179Gly
ENST00000259008.7:c.3536T>G MANE Select ENSP00000259008.2:p.Val1179Gly
NM_032043.2:c.3536T>G , LRG_300t1:c.3536T>G NP_114432.2:p.Val1179Gly
ENST00000259008.6:c.3536T>G ENSP00000259008.2:p.Val1179Gly
ENST00000682073.1:n.2276T>G
ENST00000682453.1:c.3536T>G ENSP00000506943.1:p.Val1179Gly
ENST00000682477.1:c.*2962T>G ENSP00000507075.1:n.*2962T>G
ENST00000682589.1:n.9413T>G
ENST00000682755.1:c.3314T>G ENSP00000507660.1:p.Val1105Gly
ENST00000682989.1:c.*627T>G ENSP00000507786.1:n.*627T>G
ENST00000683039.1:c.3536T>G ENSP00000508303.1:p.Val1179Gly
ENST00000683235.1:c.*951T>G ENSP00000507646.1:n.*951T>G
ENST00000683535.1:n.1666T>G
ENST00000684584.1:c.2699T>G ENSP00000508044.1:p.Val900Gly
ENST00000684626.1:n.1782T>G
ENST00000684769.1:c.1726T>G ENSP00000507691.1:n.1726T>G
XM_011525332.1:c.3596T>G XP_011523634.1:p.Val1199Gly
XM_011525332.3:c.3596T>G XP_011523634.1:p.Val1199Gly
XM_011525333.1:c.3596T>G XP_011523635.1:p.Val1199Gly
XM_011525333.3:c.3596T>G XP_011523635.1:p.Val1199Gly
XM_011525334.1:c.3596T>G XP_011523636.1:p.Val1199Gly
XM_011525334.2:c.3596T>G XP_011523636.1:p.Val1199Gly
XM_011525335.1:c.3536T>G XP_011523637.1:p.Val1179Gly
XM_011525335.3:c.3536T>G XP_011523637.1:p.Val1179Gly
XM_011525336.1:c.3476T>G XP_011523638.1:p.Val1159Gly
XM_011525336.2:c.3476T>G XP_011523638.1:p.Val1159Gly
XM_011525337.1:c.3395T>G XP_011523639.1:p.Val1132Gly
XM_011525337.2:c.3395T>G XP_011523639.1:p.Val1132Gly
XM_011525338.1:c.3113T>G XP_011523640.1:p.Val1038Gly
XM_011525338.2:c.3113T>G XP_011523640.1:p.Val1038Gly
XM_017025200.1:c.3053T>G XP_016880689.1:p.Val1018Gly
XM_017025201.1:c.3053T>G XP_016880690.1:p.Val1018Gly
XM_017025202.1:c.1682T>G XP_016880691.1:p.Val561Gly
XM_017025203.1:c.1682T>G XP_016880692.1:p.Val561Gly