Canonical Allele Identifier: CA2733908099
Gene: BRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs2145329655

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61801199C>A , CM000679.2:g.61801199C>A GRCh38
NC_000017.10:g.59878560C>A , CM000679.1:g.59878560C>A GRCh37
NC_000017.9:g.57233342C>A NCBI36
NG_007409.2:g.67361G>T , LRG_300:g.67361G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000579028.2:c.633+54G>T ENSP00000463827.2:n.633+54G>T
ENST00000584322.2:c.1140+54G>T ENSP00000463272.2:n.1140+54G>T
ENST00000682066.1:c.633+54G>T ENSP00000507191.1:n.633+54G>T
ENST00000682453.1:c.1140+54G>T ENSP00000506943.1:n.1140+54G>T
ENST00000682477.1:c.1140+54G>T ENSP00000507075.1:n.1140+54G>T
ENST00000682589.1:n.2881+54G>T
ENST00000682611.1:c.633+54G>T ENSP00000508326.1:n.633+54G>T
ENST00000682755.1:c.919-1900G>T ENSP00000507660.1:n.919-1900G>T
ENST00000682989.1:c.1140+54G>T ENSP00000507786.1:n.1140+54G>T
ENST00000683039.1:c.1140+54G>T ENSP00000508303.1:n.1140+54G>T
ENST00000683235.1:c.1140+54G>T ENSP00000507646.1:n.1140+54G>T
ENST00000683381.1:c.1140+54G>T ENSP00000508184.1:n.1140+54G>T
ENST00000683692.1:c.718+54G>T ENSP00000507964.1:n.718+54G>T
ENST00000684584.1:c.633+54G>T ENSP00000508044.1:n.633+54G>T
ENST00000259008.7:c.1140+54G>T MANE Select ENSP00000259008.2:n.1140+54G>T
ENST00000259008.6:c.1140+54G>T ENSP00000259008.2:n.1140+54G>T
ENST00000577598.5:c.1140+54G>T ENSP00000464654.1:n.1140+54G>T
NM_032043.2:c.1140+54G>T , LRG_300t1:c.1140+54G>T NP_114432.2:n.1140+54G>T
XM_011525332.1:c.1140+54G>T XP_011523634.1:n.1140+54G>T
XM_011525333.1:c.1140+54G>T XP_011523635.1:n.1140+54G>T
XM_011525334.1:c.1140+54G>T XP_011523636.1:n.1140+54G>T
XM_011525335.1:c.1140+54G>T XP_011523637.1:n.1140+54G>T
XM_011525336.1:c.1140+54G>T XP_011523638.1:n.1140+54G>T
XM_011525337.1:c.1140+54G>T XP_011523639.1:n.1140+54G>T
XM_011525338.1:c.657+54G>T XP_011523640.1:n.657+54G>T
XM_011525339.1:c.1140+54G>T XP_011523641.1:n.1140+54G>T
XM_011525340.1:c.1140+54G>T XP_011523642.1:n.1140+54G>T
XM_011525341.1:c.1140+54G>T XP_011523643.1:n.1140+54G>T
XM_011525332.3:c.1140+54G>T XP_011523634.1:n.1140+54G>T
XM_011525333.3:c.1140+54G>T XP_011523635.1:n.1140+54G>T
XM_011525334.2:c.1140+54G>T XP_011523636.1:n.1140+54G>T
XM_011525335.3:c.1140+54G>T XP_011523637.1:n.1140+54G>T
XM_011525336.2:c.1140+54G>T XP_011523638.1:n.1140+54G>T
XM_011525337.2:c.1140+54G>T XP_011523639.1:n.1140+54G>T
XM_011525338.2:c.657+54G>T XP_011523640.1:n.657+54G>T
XM_011525339.3:c.1140+54G>T XP_011523641.1:n.1140+54G>T
XM_011525340.3:c.1140+54G>T XP_011523642.1:n.1140+54G>T
XM_011525341.3:c.1140+54G>T XP_011523643.1:n.1140+54G>T
XM_017025200.1:c.657+54G>T XP_016880689.1:n.657+54G>T
XM_017025201.1:c.597+54G>T XP_016880690.1:n.597+54G>T
NM_032043.3:c.1140+54G>T MANE Select NP_114432.2:n.1140+54G>T