Canonical Allele Identifier: CA292281583
Gene: BRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs949389026

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61779197A>G , CM000679.2:g.61779197A>G GRCh38
NC_000017.10:g.59856558A>G , CM000679.1:g.59856558A>G GRCh37
NC_000017.9:g.57211340A>G NCBI36
NG_007409.2:g.89363T>C , LRG_300:g.89363T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000579028.2:c.1517+1064T>C ENSP00000463827.2:n.1517+1064T>C
ENST00000584322.2:c.1935+1064T>C ENSP00000463272.2:n.1935+1064T>C
ENST00000682066.1:c.1428+1064T>C ENSP00000507191.1:n.1428+1064T>C
ENST00000682073.1:n.675+1064T>C
ENST00000682453.1:c.1935+1064T>C ENSP00000506943.1:n.1935+1064T>C
ENST00000682477.1:c.*1361+1064T>C ENSP00000507075.1:n.*1361+1064T>C
ENST00000682589.1:n.5178T>C
ENST00000682611.1:c.1429-419T>C ENSP00000508326.1:n.1429-419T>C
ENST00000682755.1:c.1713+1064T>C ENSP00000507660.1:n.1713+1064T>C
ENST00000682989.1:c.1935+1064T>C ENSP00000507786.1:n.1935+1064T>C
ENST00000683039.1:c.1935+1064T>C ENSP00000508303.1:n.1935+1064T>C
ENST00000683235.1:c.1935+1064T>C ENSP00000507646.1:n.1935+1064T>C
ENST00000683381.1:c.1936-1018T>C ENSP00000508184.1:n.1936-1018T>C
ENST00000684471.1:n.408+1064T>C
ENST00000684584.1:c.1428+1064T>C ENSP00000508044.1:n.1428+1064T>C
ENST00000259008.7:c.1935+1064T>C MANE Select ENSP00000259008.2:n.1935+1064T>C
ENST00000259008.6:c.1935+1064T>C ENSP00000259008.2:n.1935+1064T>C
ENST00000577598.5:c.1935+1064T>C ENSP00000464654.1:n.1935+1064T>C
ENST00000579028.1:c.628+1064T>C
ENST00000583837.5:n.17+1064T>C
NM_032043.2:c.1935+1064T>C , LRG_300t1:c.1935+1064T>C NP_114432.2:n.1935+1064T>C
XM_011525332.1:c.1936-1018T>C XP_011523634.1:n.1936-1018T>C
XM_011525333.1:c.1936-1018T>C XP_011523635.1:n.1936-1018T>C
XM_011525334.1:c.1936-1018T>C XP_011523636.1:n.1936-1018T>C
XM_011525335.1:c.1936-1018T>C XP_011523637.1:n.1936-1018T>C
XM_011525336.1:c.1935+1064T>C XP_011523638.1:n.1935+1064T>C
XM_011525337.1:c.1794+1643T>C XP_011523639.1:n.1794+1643T>C
XM_011525338.1:c.1453-1018T>C XP_011523640.1:n.1453-1018T>C
XM_011525339.1:c.1936-1018T>C XP_011523641.1:n.1936-1018T>C
XM_011525340.1:c.1936-1018T>C XP_011523642.1:n.1936-1018T>C
XM_011525341.1:c.1936-419T>C XP_011523643.1:n.1936-419T>C
XM_011525332.3:c.1936-1018T>C XP_011523634.1:n.1936-1018T>C
XM_011525333.3:c.1936-1018T>C XP_011523635.1:n.1936-1018T>C
XM_011525334.2:c.1936-1018T>C XP_011523636.1:n.1936-1018T>C
XM_011525335.3:c.1936-1018T>C XP_011523637.1:n.1936-1018T>C
XM_011525336.2:c.1935+1064T>C XP_011523638.1:n.1935+1064T>C
XM_011525337.2:c.1794+1643T>C XP_011523639.1:n.1794+1643T>C
XM_011525338.2:c.1453-1018T>C XP_011523640.1:n.1453-1018T>C
XM_011525339.3:c.1936-1018T>C XP_011523641.1:n.1936-1018T>C
XM_011525340.3:c.1936-1018T>C XP_011523642.1:n.1936-1018T>C
XM_011525341.3:c.1936-419T>C XP_011523643.1:n.1936-419T>C
XM_017025200.1:c.1452+1064T>C XP_016880689.1:n.1452+1064T>C
XM_017025201.1:c.1393-1018T>C XP_016880690.1:n.1393-1018T>C
XM_017025202.1:c.-444T>C XP_016880691.1:n.-444T>C
XM_017025203.1:c.-25-419T>C XP_016880692.1:n.-25-419T>C
NM_032043.3:c.1935+1064T>C MANE Select NP_114432.2:n.1935+1064T>C