Canonical Allele Identifier: CA8690397
Community Standard Title: NM_032043.3(BRIP1):c.3089C>T (p.Ala1030Val)
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683957G>A , CM000679.2:g.61683957G>A GRCh38
NC_000017.10:g.59761318G>A , CM000679.1:g.59761318G>A GRCh37
NC_000017.9:g.57116100G>A NCBI36
NG_007409.2:g.184603C>T , LRG_300:g.184603C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.3089C>T MANE Select NP_114432.2:p.Ala1030Val
ENST00000259008.7:c.3089C>T MANE Select ENSP00000259008.2:p.Ala1030Val
NM_032043.2:c.3089C>T , LRG_300t1:c.3089C>T NP_114432.2:p.Ala1030Val
ENST00000259008.6:c.3089C>T ENSP00000259008.2:p.Ala1030Val
ENST00000682073.1:n.1829C>T
ENST00000682453.1:c.3089C>T ENSP00000506943.1:p.Ala1030Val
ENST00000682477.1:c.*2515C>T ENSP00000507075.1:n.*2515C>T
ENST00000682589.1:n.8966C>T
ENST00000682755.1:c.2867C>T ENSP00000507660.1:p.Ala956Val
ENST00000682989.1:c.*180C>T ENSP00000507786.1:n.*180C>T
ENST00000683039.1:c.3089C>T ENSP00000508303.1:p.Ala1030Val
ENST00000683235.1:c.*504C>T ENSP00000507646.1:n.*504C>T
ENST00000683535.1:n.1219C>T
ENST00000684584.1:c.2252C>T ENSP00000508044.1:p.Ala751Val
ENST00000684626.1:n.1335C>T
ENST00000684769.1:c.1279C>T ENSP00000507691.1:n.1279C>T
XM_011525332.1:c.3149C>T XP_011523634.1:p.Ala1050Val
XM_011525332.3:c.3149C>T XP_011523634.1:p.Ala1050Val
XM_011525333.1:c.3149C>T XP_011523635.1:p.Ala1050Val
XM_011525333.3:c.3149C>T XP_011523635.1:p.Ala1050Val
XM_011525334.1:c.3149C>T XP_011523636.1:p.Ala1050Val
XM_011525334.2:c.3149C>T XP_011523636.1:p.Ala1050Val
XM_011525335.1:c.3089C>T XP_011523637.1:p.Ala1030Val
XM_011525335.3:c.3089C>T XP_011523637.1:p.Ala1030Val
XM_011525336.1:c.3029C>T XP_011523638.1:p.Ala1010Val
XM_011525336.2:c.3029C>T XP_011523638.1:p.Ala1010Val
XM_011525337.1:c.2948C>T XP_011523639.1:p.Ala983Val
XM_011525337.2:c.2948C>T XP_011523639.1:p.Ala983Val
XM_011525338.1:c.2666C>T XP_011523640.1:p.Ala889Val
XM_011525338.2:c.2666C>T XP_011523640.1:p.Ala889Val
XM_017025200.1:c.2606C>T XP_016880689.1:p.Ala869Val
XM_017025201.1:c.2606C>T XP_016880690.1:p.Ala869Val
XM_017025202.1:c.1235C>T XP_016880691.1:p.Ala412Val
XM_017025203.1:c.1235C>T XP_016880692.1:p.Ala412Val