Canonical Allele Identifier: CA400477732
Community Standard Title: NM_032043.3(BRIP1):c.3730A>G (p.Met1244Val)
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683316T>C , CM000679.2:g.61683316T>C GRCh38
NC_000017.10:g.59760677T>C , CM000679.1:g.59760677T>C GRCh37
NC_000017.9:g.57115459T>C NCBI36
NG_007409.2:g.185244A>G , LRG_300:g.185244A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.3730A>G MANE Select NP_114432.2:p.Met1244Val
ENST00000259008.7:c.3730A>G MANE Select ENSP00000259008.2:p.Met1244Val
NM_032043.2:c.3730A>G , LRG_300t1:c.3730A>G NP_114432.2:p.Met1244Val
ENST00000259008.6:c.3730A>G ENSP00000259008.2:p.Met1244Val
ENST00000682073.1:n.2470A>G
ENST00000682453.1:c.3730A>G ENSP00000506943.1:p.Met1244Val
ENST00000682477.1:c.*3156A>G ENSP00000507075.1:n.*3156A>G
ENST00000682589.1:n.9607A>G
ENST00000682755.1:c.3508A>G ENSP00000507660.1:p.Met1170Val
ENST00000682989.1:c.*821A>G ENSP00000507786.1:n.*821A>G
ENST00000683039.1:c.3730A>G ENSP00000508303.1:p.Met1244Val
ENST00000683235.1:c.*1145A>G ENSP00000507646.1:n.*1145A>G
ENST00000683535.1:n.1860A>G
ENST00000684584.1:c.2893A>G ENSP00000508044.1:p.Met965Val
ENST00000684626.1:n.1976A>G
ENST00000684769.1:c.1920A>G ENSP00000507691.1:n.1920A>G
XM_011525332.1:c.3790A>G XP_011523634.1:p.Met1264Val
XM_011525332.3:c.3790A>G XP_011523634.1:p.Met1264Val
XM_011525333.1:c.3790A>G XP_011523635.1:p.Met1264Val
XM_011525333.3:c.3790A>G XP_011523635.1:p.Met1264Val
XM_011525334.1:c.3790A>G XP_011523636.1:p.Met1264Val
XM_011525334.2:c.3790A>G XP_011523636.1:p.Met1264Val
XM_011525335.1:c.3730A>G XP_011523637.1:p.Met1244Val
XM_011525335.3:c.3730A>G XP_011523637.1:p.Met1244Val
XM_011525336.1:c.3670A>G XP_011523638.1:p.Met1224Val
XM_011525336.2:c.3670A>G XP_011523638.1:p.Met1224Val
XM_011525337.1:c.3589A>G XP_011523639.1:p.Met1197Val
XM_011525337.2:c.3589A>G XP_011523639.1:p.Met1197Val
XM_011525338.1:c.3307A>G XP_011523640.1:p.Met1103Val
XM_011525338.2:c.3307A>G XP_011523640.1:p.Met1103Val
XM_017025200.1:c.3247A>G XP_016880689.1:p.Met1083Val
XM_017025201.1:c.3247A>G XP_016880690.1:p.Met1083Val
XM_017025202.1:c.1876A>G XP_016880691.1:p.Met626Val
XM_017025203.1:c.1876A>G XP_016880692.1:p.Met626Val