Canonical Allele Identifier: CA400478939

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1315629
• ClinVar RCV Id: RCV001755291 ; RCV002268569 ; RCV002300583
• dbSNP Id: rs2144079516
• MyVariant Identifiers: chr17:g.59761065C>G (hg19) ; chr17:g.61683704C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683704C>G , CM000679.2:g.61683704C>G	GRCh38
NC_000017.10:g.59761065C>G , CM000679.1:g.59761065C>G	GRCh37
NC_000017.9:g.57115847C>G	NCBI36
NG_007409.2:g.184856G>C , LRG_300:g.184856G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2082G>C
ENST00000682453.1:c.3342G>C	ENSP00000506943.1:p.Gln1114His
ENST00000682477.1:c.*2768G>C	ENSP00000507075.1:n.*2768G>C
ENST00000682589.1:n.9219G>C
ENST00000682755.1:c.3120G>C	ENSP00000507660.1:p.Gln1040His
ENST00000682989.1:c.*433G>C	ENSP00000507786.1:n.*433G>C
ENST00000683039.1:c.3342G>C	ENSP00000508303.1:p.Gln1114His
ENST00000683235.1:c.*757G>C	ENSP00000507646.1:n.*757G>C
ENST00000683535.1:n.1472G>C
ENST00000684584.1:c.2505G>C	ENSP00000508044.1:p.Gln835His
ENST00000684626.1:n.1588G>C
ENST00000684769.1:c.1532G>C	ENSP00000507691.1:n.1532G>C
ENST00000259008.7:c.3342G>C MANE Select	ENSP00000259008.2:p.Gln1114His
ENST00000259008.6:c.3342G>C	ENSP00000259008.2:p.Gln1114His
NM_032043.2:c.3342G>C , LRG_300t1:c.3342G>C	NP_114432.2:p.Gln1114His
XM_011525332.1:c.3402G>C	XP_011523634.1:p.Gln1134His
XM_011525333.1:c.3402G>C	XP_011523635.1:p.Gln1134His
XM_011525334.1:c.3402G>C	XP_011523636.1:p.Gln1134His
XM_011525335.1:c.3342G>C	XP_011523637.1:p.Gln1114His
XM_011525336.1:c.3282G>C	XP_011523638.1:p.Gln1094His
XM_011525337.1:c.3201G>C	XP_011523639.1:p.Gln1067His
XM_011525338.1:c.2919G>C	XP_011523640.1:p.Gln973His
XM_011525332.3:c.3402G>C	XP_011523634.1:p.Gln1134His
XM_011525333.3:c.3402G>C	XP_011523635.1:p.Gln1134His
XM_011525334.2:c.3402G>C	XP_011523636.1:p.Gln1134His
XM_011525335.3:c.3342G>C	XP_011523637.1:p.Gln1114His
XM_011525336.2:c.3282G>C	XP_011523638.1:p.Gln1094His
XM_011525337.2:c.3201G>C	XP_011523639.1:p.Gln1067His
XM_011525338.2:c.2919G>C	XP_011523640.1:p.Gln973His
XM_017025200.1:c.2859G>C	XP_016880689.1:p.Gln953His
XM_017025201.1:c.2859G>C	XP_016880690.1:p.Gln953His
XM_017025202.1:c.1488G>C	XP_016880691.1:p.Gln496His
XM_017025203.1:c.1488G>C	XP_016880692.1:p.Gln496His
NM_032043.3:c.3342G>C MANE Select	NP_114432.2:p.Gln1114His