Canonical Allele Identifier: CA16607403

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 386142
• ClinVar RCV Id: RCV000427270 ; RCV000775895 ; RCV000820752 ; RCV003444233 ; RCV004539858
• dbSNP Id: rs1057522433
• MyVariant Identifiers: chr17:g.59760946C>G (hg19) ; chr17:g.61683585C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683585C>G , CM000679.2:g.61683585C>G	GRCh38
NC_000017.10:g.59760946C>G , CM000679.1:g.59760946C>G	GRCh37
NC_000017.9:g.57115728C>G	NCBI36
NG_007409.2:g.184975G>C , LRG_300:g.184975G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2201G>C
ENST00000682453.1:c.3461G>C	ENSP00000506943.1:p.Arg1154Thr
ENST00000682477.1:c.*2887G>C	ENSP00000507075.1:n.*2887G>C
ENST00000682589.1:n.9338G>C
ENST00000682755.1:c.3239G>C	ENSP00000507660.1:p.Arg1080Thr
ENST00000682989.1:c.*552G>C	ENSP00000507786.1:n.*552G>C
ENST00000683039.1:c.3461G>C	ENSP00000508303.1:p.Arg1154Thr
ENST00000683235.1:c.*876G>C	ENSP00000507646.1:n.*876G>C
ENST00000683535.1:n.1591G>C
ENST00000684584.1:c.2624G>C	ENSP00000508044.1:p.Arg875Thr
ENST00000684626.1:n.1707G>C
ENST00000684769.1:c.1651G>C	ENSP00000507691.1:n.1651G>C
ENST00000259008.7:c.3461G>C MANE Select	ENSP00000259008.2:p.Arg1154Thr
ENST00000259008.6:c.3461G>C	ENSP00000259008.2:p.Arg1154Thr
NM_032043.2:c.3461G>C , LRG_300t1:c.3461G>C	NP_114432.2:p.Arg1154Thr
XM_011525332.1:c.3521G>C	XP_011523634.1:p.Arg1174Thr
XM_011525333.1:c.3521G>C	XP_011523635.1:p.Arg1174Thr
XM_011525334.1:c.3521G>C	XP_011523636.1:p.Arg1174Thr
XM_011525335.1:c.3461G>C	XP_011523637.1:p.Arg1154Thr
XM_011525336.1:c.3401G>C	XP_011523638.1:p.Arg1134Thr
XM_011525337.1:c.3320G>C	XP_011523639.1:p.Arg1107Thr
XM_011525338.1:c.3038G>C	XP_011523640.1:p.Arg1013Thr
XM_011525332.3:c.3521G>C	XP_011523634.1:p.Arg1174Thr
XM_011525333.3:c.3521G>C	XP_011523635.1:p.Arg1174Thr
XM_011525334.2:c.3521G>C	XP_011523636.1:p.Arg1174Thr
XM_011525335.3:c.3461G>C	XP_011523637.1:p.Arg1154Thr
XM_011525336.2:c.3401G>C	XP_011523638.1:p.Arg1134Thr
XM_011525337.2:c.3320G>C	XP_011523639.1:p.Arg1107Thr
XM_011525338.2:c.3038G>C	XP_011523640.1:p.Arg1013Thr
XM_017025200.1:c.2978G>C	XP_016880689.1:p.Arg993Thr
XM_017025201.1:c.2978G>C	XP_016880690.1:p.Arg993Thr
XM_017025202.1:c.1607G>C	XP_016880691.1:p.Arg536Thr
XM_017025203.1:c.1607G>C	XP_016880692.1:p.Arg536Thr
NM_032043.3:c.3461G>C MANE Select	NP_114432.2:p.Arg1154Thr