Canonical Allele Identifier: CA400480774
Community Standard Title: NM_032043.3(BRIP1):c.2906A>G (p.Asn969Ser)
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61684140T>C , CM000679.2:g.61684140T>C GRCh38
NC_000017.10:g.59761501T>C , CM000679.1:g.59761501T>C GRCh37
NC_000017.9:g.57116283T>C NCBI36
NG_007409.2:g.184420A>G , LRG_300:g.184420A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.2906A>G MANE Select NP_114432.2:p.Asn969Ser
ENST00000259008.7:c.2906A>G MANE Select ENSP00000259008.2:p.Asn969Ser
NM_032043.2:c.2906A>G , LRG_300t1:c.2906A>G NP_114432.2:p.Asn969Ser
ENST00000259008.6:c.2906A>G ENSP00000259008.2:p.Asn969Ser
ENST00000682073.1:n.1646A>G
ENST00000682453.1:c.2906A>G ENSP00000506943.1:p.Asn969Ser
ENST00000682477.1:c.*2332A>G ENSP00000507075.1:n.*2332A>G
ENST00000682589.1:n.8783A>G
ENST00000682755.1:c.2684A>G ENSP00000507660.1:p.Asn895Ser
ENST00000682989.1:c.2610A>G ENSP00000507786.1:p.Arg870=
ENST00000683039.1:c.2906A>G ENSP00000508303.1:p.Asn969Ser
ENST00000683235.1:c.*321A>G ENSP00000507646.1:n.*321A>G
ENST00000683535.1:n.1036A>G
ENST00000684584.1:c.2069A>G ENSP00000508044.1:p.Asp690Gly
ENST00000684626.1:n.1152A>G
ENST00000684769.1:c.1096A>G ENSP00000507691.1:n.1096A>G
XM_011525332.1:c.2966A>G XP_011523634.1:p.Asn989Ser
XM_011525332.3:c.2966A>G XP_011523634.1:p.Asn989Ser
XM_011525333.1:c.2966A>G XP_011523635.1:p.Asn989Ser
XM_011525333.3:c.2966A>G XP_011523635.1:p.Asn989Ser
XM_011525334.1:c.2966A>G XP_011523636.1:p.Asn989Ser
XM_011525334.2:c.2966A>G XP_011523636.1:p.Asn989Ser
XM_011525335.1:c.2906A>G XP_011523637.1:p.Asn969Ser
XM_011525335.3:c.2906A>G XP_011523637.1:p.Asn969Ser
XM_011525336.1:c.2846A>G XP_011523638.1:p.Asn949Ser
XM_011525336.2:c.2846A>G XP_011523638.1:p.Asn949Ser
XM_011525337.1:c.2765A>G XP_011523639.1:p.Asn922Ser
XM_011525337.2:c.2765A>G XP_011523639.1:p.Asn922Ser
XM_011525338.1:c.2483A>G XP_011523640.1:p.Asn828Ser
XM_011525338.2:c.2483A>G XP_011523640.1:p.Asn828Ser
XM_017025200.1:c.2423A>G XP_016880689.1:p.Asn808Ser
XM_017025201.1:c.2423A>G XP_016880690.1:p.Asn808Ser
XM_017025202.1:c.1052A>G XP_016880691.1:p.Asn351Ser
XM_017025203.1:c.1052A>G XP_016880692.1:p.Asn351Ser