Canonical Allele Identifier: CA400485518
Gene: BRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs1323005329

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61857180C>A , CM000679.2:g.61857180C>A GRCh38
NC_000017.10:g.59934541C>A , CM000679.1:g.59934541C>A GRCh37
NC_000017.9:g.57289323C>A NCBI36
NG_007409.2:g.11380G>T , LRG_300:g.11380G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000577913.2:c.257G>T ENSP00000462274.2:p.Cys86Phe
ENST00000584322.2:c.257G>T ENSP00000463272.2:p.Cys86Phe
ENST00000682369.1:c.257G>T ENSP00000507450.1:p.Cys86Phe
ENST00000682453.1:c.257G>T ENSP00000506943.1:p.Cys86Phe
ENST00000682477.1:c.257G>T ENSP00000507075.1:p.Cys86Phe
ENST00000682589.1:n.1998G>T
ENST00000682755.1:c.257G>T ENSP00000507660.1:p.Cys86Phe
ENST00000682989.1:c.257G>T ENSP00000507786.1:p.Cys86Phe
ENST00000683039.1:c.257G>T ENSP00000508303.1:p.Cys86Phe
ENST00000683235.1:c.257G>T ENSP00000507646.1:p.Cys86Phe
ENST00000683381.1:c.257G>T ENSP00000508184.1:p.Cys86Phe
ENST00000683672.1:c.-41G>T ENSP00000506781.1:n.-41G>T
ENST00000259008.7:c.257G>T MANE Select ENSP00000259008.2:p.Cys86Phe
ENST00000259008.6:c.257G>T ENSP00000259008.2:p.Cys86Phe
ENST00000577598.5:c.257G>T ENSP00000464654.1:p.Cys86Phe
NM_032043.2:c.257G>T , LRG_300t1:c.257G>T NP_114432.2:p.Cys86Phe
XM_011525332.1:c.257G>T XP_011523634.1:p.Cys86Phe
XM_011525333.1:c.257G>T XP_011523635.1:p.Cys86Phe
XM_011525334.1:c.257G>T XP_011523636.1:p.Cys86Phe
XM_011525335.1:c.257G>T XP_011523637.1:p.Cys86Phe
XM_011525336.1:c.257G>T XP_011523638.1:p.Cys86Phe
XM_011525337.1:c.257G>T XP_011523639.1:p.Cys86Phe
XM_011525338.1:c.-99G>T XP_011523640.1:n.-99G>T
XM_011525339.1:c.257G>T XP_011523641.1:p.Cys86Phe
XM_011525340.1:c.257G>T XP_011523642.1:p.Cys86Phe
XM_011525341.1:c.257G>T XP_011523643.1:p.Cys86Phe
XM_011525332.3:c.257G>T XP_011523634.1:p.Cys86Phe
XM_011525333.3:c.257G>T XP_011523635.1:p.Cys86Phe
XM_011525334.2:c.257G>T XP_011523636.1:p.Cys86Phe
XM_011525335.3:c.257G>T XP_011523637.1:p.Cys86Phe
XM_011525336.2:c.257G>T XP_011523638.1:p.Cys86Phe
XM_011525337.2:c.257G>T XP_011523639.1:p.Cys86Phe
XM_011525339.3:c.257G>T XP_011523641.1:p.Cys86Phe
XM_011525340.3:c.257G>T XP_011523642.1:p.Cys86Phe
XM_011525341.3:c.257G>T XP_011523643.1:p.Cys86Phe
NM_032043.3:c.257G>T MANE Select NP_114432.2:p.Cys86Phe