Canonical Allele Identifier: CA2639155831
Gene: BRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs762289143

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61780413C>G , CM000679.2:g.61780413C>G GRCh38
NC_000017.10:g.59857774C>G , CM000679.1:g.59857774C>G GRCh37
NC_000017.9:g.57212556C>G NCBI36
NG_007409.2:g.88147G>C , LRG_300:g.88147G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000579028.2:c.1377-12G>C ENSP00000463827.2:n.1377-12G>C
ENST00000584322.2:c.1795-12G>C ENSP00000463272.2:n.1795-12G>C
ENST00000682066.1:c.1288-12G>C ENSP00000507191.1:n.1288-12G>C
ENST00000682073.1:n.535-12G>C
ENST00000682453.1:c.1795-12G>C ENSP00000506943.1:n.1795-12G>C
ENST00000682477.1:c.*1221-12G>C ENSP00000507075.1:n.*1221-12G>C
ENST00000682589.1:n.3962G>C
ENST00000682611.1:c.1288-12G>C ENSP00000508326.1:n.1288-12G>C
ENST00000682755.1:c.1573-12G>C ENSP00000507660.1:n.1573-12G>C
ENST00000682989.1:c.1795-12G>C ENSP00000507786.1:n.1795-12G>C
ENST00000683039.1:c.1795-12G>C ENSP00000508303.1:n.1795-12G>C
ENST00000683235.1:c.1795-12G>C ENSP00000507646.1:n.1795-12G>C
ENST00000683381.1:c.1795-12G>C ENSP00000508184.1:n.1795-12G>C
ENST00000684471.1:n.256G>C
ENST00000684584.1:c.1288-12G>C ENSP00000508044.1:n.1288-12G>C
ENST00000259008.7:c.1795-12G>C MANE Select ENSP00000259008.2:n.1795-12G>C
ENST00000259008.6:c.1795-12G>C ENSP00000259008.2:n.1795-12G>C
ENST00000577598.5:c.1795-12G>C ENSP00000464654.1:n.1795-12G>C
ENST00000579028.1:c.488-12G>C
NM_032043.2:c.1795-12G>C , LRG_300t1:c.1795-12G>C NP_114432.2:n.1795-12G>C
XM_011525332.1:c.1795-12G>C XP_011523634.1:n.1795-12G>C
XM_011525333.1:c.1795-12G>C XP_011523635.1:n.1795-12G>C
XM_011525334.1:c.1795-12G>C XP_011523636.1:n.1795-12G>C
XM_011525335.1:c.1795-12G>C XP_011523637.1:n.1795-12G>C
XM_011525336.1:c.1795-12G>C XP_011523638.1:n.1795-12G>C
XM_011525337.1:c.1794+427G>C XP_011523639.1:n.1794+427G>C
XM_011525338.1:c.1312-12G>C XP_011523640.1:n.1312-12G>C
XM_011525339.1:c.1795-12G>C XP_011523641.1:n.1795-12G>C
XM_011525340.1:c.1795-12G>C XP_011523642.1:n.1795-12G>C
XM_011525341.1:c.1795-12G>C XP_011523643.1:n.1795-12G>C
XM_011525332.3:c.1795-12G>C XP_011523634.1:n.1795-12G>C
XM_011525333.3:c.1795-12G>C XP_011523635.1:n.1795-12G>C
XM_011525334.2:c.1795-12G>C XP_011523636.1:n.1795-12G>C
XM_011525335.3:c.1795-12G>C XP_011523637.1:n.1795-12G>C
XM_011525336.2:c.1795-12G>C XP_011523638.1:n.1795-12G>C
XM_011525337.2:c.1794+427G>C XP_011523639.1:n.1794+427G>C
XM_011525338.2:c.1312-12G>C XP_011523640.1:n.1312-12G>C
XM_011525339.3:c.1795-12G>C XP_011523641.1:n.1795-12G>C
XM_011525340.3:c.1795-12G>C XP_011523642.1:n.1795-12G>C
XM_011525341.3:c.1795-12G>C XP_011523643.1:n.1795-12G>C
XM_017025200.1:c.1312-12G>C XP_016880689.1:n.1312-12G>C
XM_017025201.1:c.1252-12G>C XP_016880690.1:n.1252-12G>C
NM_032043.3:c.1795-12G>C MANE Select NP_114432.2:n.1795-12G>C