Canonical Allele Identifier: CA400478940

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 823637
• ClinVar RCV Id: RCV001020042
• dbSNP Id: rs1603275193
• MyVariant Identifiers: chr17:g.59761066T>A (hg19) ; chr17:g.61683705T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683705T>A , CM000679.2:g.61683705T>A	GRCh38
NC_000017.10:g.59761066T>A , CM000679.1:g.59761066T>A	GRCh37
NC_000017.9:g.57115848T>A	NCBI36
NG_007409.2:g.184855A>T , LRG_300:g.184855A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2081A>T
ENST00000682453.1:c.3341A>T	ENSP00000506943.1:p.Gln1114Leu
ENST00000682477.1:c.*2767A>T	ENSP00000507075.1:n.*2767A>T
ENST00000682589.1:n.9218A>T
ENST00000682755.1:c.3119A>T	ENSP00000507660.1:p.Gln1040Leu
ENST00000682989.1:c.*432A>T	ENSP00000507786.1:n.*432A>T
ENST00000683039.1:c.3341A>T	ENSP00000508303.1:p.Gln1114Leu
ENST00000683235.1:c.*756A>T	ENSP00000507646.1:n.*756A>T
ENST00000683535.1:n.1471A>T
ENST00000684584.1:c.2504A>T	ENSP00000508044.1:p.Gln835Leu
ENST00000684626.1:n.1587A>T
ENST00000684769.1:c.1531A>T	ENSP00000507691.1:n.1531A>T
ENST00000259008.7:c.3341A>T MANE Select	ENSP00000259008.2:p.Gln1114Leu
ENST00000259008.6:c.3341A>T	ENSP00000259008.2:p.Gln1114Leu
NM_032043.2:c.3341A>T , LRG_300t1:c.3341A>T	NP_114432.2:p.Gln1114Leu
XM_011525332.1:c.3401A>T	XP_011523634.1:p.Gln1134Leu
XM_011525333.1:c.3401A>T	XP_011523635.1:p.Gln1134Leu
XM_011525334.1:c.3401A>T	XP_011523636.1:p.Gln1134Leu
XM_011525335.1:c.3341A>T	XP_011523637.1:p.Gln1114Leu
XM_011525336.1:c.3281A>T	XP_011523638.1:p.Gln1094Leu
XM_011525337.1:c.3200A>T	XP_011523639.1:p.Gln1067Leu
XM_011525338.1:c.2918A>T	XP_011523640.1:p.Gln973Leu
XM_011525332.3:c.3401A>T	XP_011523634.1:p.Gln1134Leu
XM_011525333.3:c.3401A>T	XP_011523635.1:p.Gln1134Leu
XM_011525334.2:c.3401A>T	XP_011523636.1:p.Gln1134Leu
XM_011525335.3:c.3341A>T	XP_011523637.1:p.Gln1114Leu
XM_011525336.2:c.3281A>T	XP_011523638.1:p.Gln1094Leu
XM_011525337.2:c.3200A>T	XP_011523639.1:p.Gln1067Leu
XM_011525338.2:c.2918A>T	XP_011523640.1:p.Gln973Leu
XM_017025200.1:c.2858A>T	XP_016880689.1:p.Gln953Leu
XM_017025201.1:c.2858A>T	XP_016880690.1:p.Gln953Leu
XM_017025202.1:c.1487A>T	XP_016880691.1:p.Gln496Leu
XM_017025203.1:c.1487A>T	XP_016880692.1:p.Gln496Leu
NM_032043.3:c.3341A>T MANE Select	NP_114432.2:p.Gln1114Leu