Canonical Allele Identifier: CA501143332
Community Standard Title: NM_032043.3(BRIP1):c.2907T>C (p.Asn969=)
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61684139A>G , CM000679.2:g.61684139A>G GRCh38
NC_000017.10:g.59761500A>G , CM000679.1:g.59761500A>G GRCh37
NC_000017.9:g.57116282A>G NCBI36
NG_007409.2:g.184421T>C , LRG_300:g.184421T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.2907T>C MANE Select NP_114432.2:p.Asn969=
ENST00000259008.7:c.2907T>C MANE Select ENSP00000259008.2:p.Asn969=
NM_032043.2:c.2907T>C , LRG_300t1:c.2907T>C NP_114432.2:p.Asn969=
ENST00000259008.6:c.2907T>C ENSP00000259008.2:p.Asn969=
ENST00000682073.1:n.1647T>C
ENST00000682453.1:c.2907T>C ENSP00000506943.1:p.Asn969=
ENST00000682477.1:c.*2333T>C ENSP00000507075.1:n.*2333T>C
ENST00000682589.1:n.8784T>C
ENST00000682755.1:c.2685T>C ENSP00000507660.1:p.Asn895=
ENST00000682989.1:c.2611T>C ENSP00000507786.1:p.Ter871Arg
ENST00000683039.1:c.2907T>C ENSP00000508303.1:p.Asn969=
ENST00000683235.1:c.*322T>C ENSP00000507646.1:n.*322T>C
ENST00000683535.1:n.1037T>C
ENST00000684584.1:c.2070T>C ENSP00000508044.1:p.Asp690=
ENST00000684626.1:n.1153T>C
ENST00000684769.1:c.1097T>C ENSP00000507691.1:n.1097T>C
XM_011525332.1:c.2967T>C XP_011523634.1:p.Asn989=
XM_011525332.3:c.2967T>C XP_011523634.1:p.Asn989=
XM_011525333.1:c.2967T>C XP_011523635.1:p.Asn989=
XM_011525333.3:c.2967T>C XP_011523635.1:p.Asn989=
XM_011525334.1:c.2967T>C XP_011523636.1:p.Asn989=
XM_011525334.2:c.2967T>C XP_011523636.1:p.Asn989=
XM_011525335.1:c.2907T>C XP_011523637.1:p.Asn969=
XM_011525335.3:c.2907T>C XP_011523637.1:p.Asn969=
XM_011525336.1:c.2847T>C XP_011523638.1:p.Asn949=
XM_011525336.2:c.2847T>C XP_011523638.1:p.Asn949=
XM_011525337.1:c.2766T>C XP_011523639.1:p.Asn922=
XM_011525337.2:c.2766T>C XP_011523639.1:p.Asn922=
XM_011525338.1:c.2484T>C XP_011523640.1:p.Asn828=
XM_011525338.2:c.2484T>C XP_011523640.1:p.Asn828=
XM_017025200.1:c.2424T>C XP_016880689.1:p.Asn808=
XM_017025201.1:c.2424T>C XP_016880690.1:p.Asn808=
XM_017025202.1:c.1053T>C XP_016880691.1:p.Asn351=
XM_017025203.1:c.1053T>C XP_016880692.1:p.Asn351=