Canonical Allele Identifier: CA400482996
Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1749924
ClinVar RCV Id: RCV002353191

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61847146T>G , CM000679.2:g.61847146T>G GRCh38
NC_000017.10:g.59924507T>G , CM000679.1:g.59924507T>G GRCh37
NC_000017.9:g.57279289T>G NCBI36
NG_007409.2:g.21414A>C , LRG_300:g.21414A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000577913.2:c.582A>C ENSP00000462274.2:p.Lys194Asn
ENST00000579028.2:c.75A>C ENSP00000463827.2:p.Lys25Asn
ENST00000584322.2:c.582A>C ENSP00000463272.2:p.Lys194Asn
ENST00000682066.1:c.75A>C ENSP00000507191.1:p.Lys25Asn
ENST00000682369.1:c.582A>C ENSP00000507450.1:p.Lys194Asn
ENST00000682453.1:c.582A>C ENSP00000506943.1:p.Lys194Asn
ENST00000682477.1:c.582A>C ENSP00000507075.1:p.Lys194Asn
ENST00000682589.1:n.2323A>C
ENST00000682611.1:c.75A>C ENSP00000508326.1:p.Lys25Asn
ENST00000682755.1:c.582A>C ENSP00000507660.1:p.Lys194Asn
ENST00000682989.1:c.582A>C ENSP00000507786.1:p.Lys194Asn
ENST00000683039.1:c.582A>C ENSP00000508303.1:p.Lys194Asn
ENST00000683235.1:c.582A>C ENSP00000507646.1:p.Lys194Asn
ENST00000683381.1:c.582A>C ENSP00000508184.1:p.Lys194Asn
ENST00000683672.1:c.*70A>C ENSP00000506781.1:n.*70A>C
ENST00000683692.1:c.75A>C ENSP00000507964.1:p.Lys25Asn
ENST00000684584.1:c.75A>C ENSP00000508044.1:p.Lys25Asn
ENST00000259008.7:c.582A>C MANE Select ENSP00000259008.2:p.Lys194Asn
ENST00000259008.6:c.582A>C ENSP00000259008.2:p.Lys194Asn
ENST00000577598.5:c.582A>C ENSP00000464654.1:p.Lys194Asn
NM_032043.2:c.582A>C , LRG_300t1:c.582A>C NP_114432.2:p.Lys194Asn
XM_011525332.1:c.582A>C XP_011523634.1:p.Lys194Asn
XM_011525333.1:c.582A>C XP_011523635.1:p.Lys194Asn
XM_011525334.1:c.582A>C XP_011523636.1:p.Lys194Asn
XM_011525335.1:c.582A>C XP_011523637.1:p.Lys194Asn
XM_011525336.1:c.582A>C XP_011523638.1:p.Lys194Asn
XM_011525337.1:c.582A>C XP_011523639.1:p.Lys194Asn
XM_011525338.1:c.99A>C XP_011523640.1:p.Lys33Asn
XM_011525339.1:c.582A>C XP_011523641.1:p.Lys194Asn
XM_011525340.1:c.582A>C XP_011523642.1:p.Lys194Asn
XM_011525341.1:c.582A>C XP_011523643.1:p.Lys194Asn
XM_011525332.3:c.582A>C XP_011523634.1:p.Lys194Asn
XM_011525333.3:c.582A>C XP_011523635.1:p.Lys194Asn
XM_011525334.2:c.582A>C XP_011523636.1:p.Lys194Asn
XM_011525335.3:c.582A>C XP_011523637.1:p.Lys194Asn
XM_011525336.2:c.582A>C XP_011523638.1:p.Lys194Asn
XM_011525337.2:c.582A>C XP_011523639.1:p.Lys194Asn
XM_011525338.2:c.99A>C XP_011523640.1:p.Lys33Asn
XM_011525339.3:c.582A>C XP_011523641.1:p.Lys194Asn
XM_011525340.3:c.582A>C XP_011523642.1:p.Lys194Asn
XM_011525341.3:c.582A>C XP_011523643.1:p.Lys194Asn
XM_017025200.1:c.99A>C XP_016880689.1:p.Lys33Asn
NM_032043.3:c.582A>C MANE Select NP_114432.2:p.Lys194Asn