Canonical Allele Identifier: CA400479268

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2626380
• ClinVar RCV Id: RCV003382360
• dbSNP Id: rs2144084035
• gnomAD v4: 17-61683828-A-G
• MyVariant Identifiers: chr17:g.59761189A>G (hg19) ; chr17:g.61683828A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683828A>G , CM000679.2:g.61683828A>G	GRCh38
NC_000017.10:g.59761189A>G , CM000679.1:g.59761189A>G	GRCh37
NC_000017.9:g.57115971A>G	NCBI36
NG_007409.2:g.184732T>C , LRG_300:g.184732T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1958T>C
ENST00000682453.1:c.3218T>C	ENSP00000506943.1:p.Ile1073Thr
ENST00000682477.1:c.*2644T>C	ENSP00000507075.1:n.*2644T>C
ENST00000682589.1:n.9095T>C
ENST00000682755.1:c.2996T>C	ENSP00000507660.1:p.Ile999Thr
ENST00000682989.1:c.*309T>C	ENSP00000507786.1:n.*309T>C
ENST00000683039.1:c.3218T>C	ENSP00000508303.1:p.Ile1073Thr
ENST00000683235.1:c.*633T>C	ENSP00000507646.1:n.*633T>C
ENST00000683535.1:n.1348T>C
ENST00000684584.1:c.2381T>C	ENSP00000508044.1:p.Ile794Thr
ENST00000684626.1:n.1464T>C
ENST00000684769.1:c.1408T>C	ENSP00000507691.1:n.1408T>C
ENST00000259008.7:c.3218T>C MANE Select	ENSP00000259008.2:p.Ile1073Thr
ENST00000259008.6:c.3218T>C	ENSP00000259008.2:p.Ile1073Thr
NM_032043.2:c.3218T>C , LRG_300t1:c.3218T>C	NP_114432.2:p.Ile1073Thr
XM_011525332.1:c.3278T>C	XP_011523634.1:p.Ile1093Thr
XM_011525333.1:c.3278T>C	XP_011523635.1:p.Ile1093Thr
XM_011525334.1:c.3278T>C	XP_011523636.1:p.Ile1093Thr
XM_011525335.1:c.3218T>C	XP_011523637.1:p.Ile1073Thr
XM_011525336.1:c.3158T>C	XP_011523638.1:p.Ile1053Thr
XM_011525337.1:c.3077T>C	XP_011523639.1:p.Ile1026Thr
XM_011525338.1:c.2795T>C	XP_011523640.1:p.Ile932Thr
XM_011525332.3:c.3278T>C	XP_011523634.1:p.Ile1093Thr
XM_011525333.3:c.3278T>C	XP_011523635.1:p.Ile1093Thr
XM_011525334.2:c.3278T>C	XP_011523636.1:p.Ile1093Thr
XM_011525335.3:c.3218T>C	XP_011523637.1:p.Ile1073Thr
XM_011525336.2:c.3158T>C	XP_011523638.1:p.Ile1053Thr
XM_011525337.2:c.3077T>C	XP_011523639.1:p.Ile1026Thr
XM_011525338.2:c.2795T>C	XP_011523640.1:p.Ile932Thr
XM_017025200.1:c.2735T>C	XP_016880689.1:p.Ile912Thr
XM_017025201.1:c.2735T>C	XP_016880690.1:p.Ile912Thr
XM_017025202.1:c.1364T>C	XP_016880691.1:p.Ile455Thr
XM_017025203.1:c.1364T>C	XP_016880692.1:p.Ile455Thr
NM_032043.3:c.3218T>C MANE Select	NP_114432.2:p.Ile1073Thr