Canonical Allele Identifier: CA400478540
Community Standard Title: NM_032043.3(BRIP1):c.1966A>T (p.Lys656Ter)
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61776532T>A , CM000679.2:g.61776532T>A GRCh38
NC_000017.10:g.59853893T>A , CM000679.1:g.59853893T>A GRCh37
NC_000017.9:g.57208675T>A NCBI36
NG_007409.2:g.92028A>T , LRG_300:g.92028A>T

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.1966A>T MANE Select NP_114432.2:p.Lys656Ter
ENST00000259008.7:c.1966A>T MANE Select ENSP00000259008.2:p.Lys656Ter
NM_032043.2:c.1966A>T , LRG_300t1:c.1966A>T NP_114432.2:p.Lys656Ter
ENST00000259008.6:c.1966A>T ENSP00000259008.2:p.Lys656Ter
ENST00000577598.5:c.1966A>T ENSP00000464654.1:p.Lys656Ter
ENST00000579028.1:c.659A>T
ENST00000579028.2:c.1548A>T ENSP00000463827.2:n.1548A>T
ENST00000583837.5:n.48A>T
ENST00000584322.2:c.1966A>T ENSP00000463272.2:p.Lys656Ter
ENST00000682066.1:c.1459A>T ENSP00000507191.1:p.Lys487Ter
ENST00000682073.1:n.706A>T
ENST00000682433.1:n.1045A>T
ENST00000682453.1:c.1966A>T ENSP00000506943.1:p.Lys656Ter
ENST00000682477.1:c.*1392A>T ENSP00000507075.1:n.*1392A>T
ENST00000682589.1:n.7843A>T
ENST00000682611.1:c.1625A>T ENSP00000508326.1:n.1625A>T
ENST00000682755.1:c.1744A>T ENSP00000507660.1:p.Lys582Ter
ENST00000682989.1:c.1966A>T ENSP00000507786.1:p.Lys656Ter
ENST00000683039.1:c.1966A>T ENSP00000508303.1:p.Lys656Ter
ENST00000683235.1:c.1966A>T ENSP00000507646.1:p.Lys656Ter
ENST00000683381.1:c.2026A>T ENSP00000508184.1:p.Lys676Ter
ENST00000683535.1:n.96A>T
ENST00000684471.1:n.409-30A>T
ENST00000684584.1:c.1459A>T ENSP00000508044.1:p.Lys487Ter
ENST00000684769.1:c.31A>T ENSP00000507691.1:p.Lys11Ter
XM_011525332.1:c.2026A>T XP_011523634.1:p.Lys676Ter
XM_011525332.3:c.2026A>T XP_011523634.1:p.Lys676Ter
XM_011525333.1:c.2026A>T XP_011523635.1:p.Lys676Ter
XM_011525333.3:c.2026A>T XP_011523635.1:p.Lys676Ter
XM_011525334.1:c.2026A>T XP_011523636.1:p.Lys676Ter
XM_011525334.2:c.2026A>T XP_011523636.1:p.Lys676Ter
XM_011525335.1:c.1996-30A>T XP_011523637.1:n.1996-30A>T
XM_011525335.3:c.1996-30A>T XP_011523637.1:n.1996-30A>T
XM_011525336.1:c.1936-30A>T XP_011523638.1:n.1936-30A>T
XM_011525336.2:c.1936-30A>T XP_011523638.1:n.1936-30A>T
XM_011525337.1:c.1825A>T XP_011523639.1:p.Lys609Ter
XM_011525337.2:c.1825A>T XP_011523639.1:p.Lys609Ter
XM_011525338.1:c.1543A>T XP_011523640.1:p.Lys515Ter
XM_011525338.2:c.1543A>T XP_011523640.1:p.Lys515Ter
XM_011525339.1:c.2026A>T XP_011523641.1:p.Lys676Ter
XM_011525339.3:c.2026A>T XP_011523641.1:p.Lys676Ter
XM_011525340.1:c.2026A>T XP_011523642.1:p.Lys676Ter
XM_011525340.3:c.2026A>T XP_011523642.1:p.Lys676Ter
XM_017025200.1:c.1483A>T XP_016880689.1:p.Lys495Ter
XM_017025201.1:c.1483A>T XP_016880690.1:p.Lys495Ter
XM_017025202.1:c.112A>T XP_016880691.1:p.Lys38Ter
XM_017025203.1:c.112A>T XP_016880692.1:p.Lys38Ter