Canonical Allele Identifier: CA187582

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 136148
• ClinVar RCV Id: RCV000123357 ; RCV000163156 ; RCV001778741 ; RCV002272135 ; RCV001284118 ; RCV004530061
• dbSNP Id: rs188258913
• ExAC: 17:59761365 A / G
• gnomAD v2: 17-59761365-A-G
• gnomAD v3: 17-61684004-A-G
• gnomAD v4: 17-61684004-A-G
• MyVariant Identifiers: chr17:g.59761365A>G (hg19) ; chr17:g.61684004A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61684004A>G , CM000679.2:g.61684004A>G	GRCh38
NC_000017.10:g.59761365A>G , CM000679.1:g.59761365A>G	GRCh37
NC_000017.9:g.57116147A>G	NCBI36
NG_007409.2:g.184556T>C , LRG_300:g.184556T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1782T>C
ENST00000682453.1:c.3042T>C	ENSP00000506943.1:p.Gly1014=
ENST00000682477.1:c.*2468T>C	ENSP00000507075.1:n.*2468T>C
ENST00000682589.1:n.8919T>C
ENST00000682755.1:c.2820T>C	ENSP00000507660.1:p.Gly940=
ENST00000682989.1:c.*133T>C	ENSP00000507786.1:n.*133T>C
ENST00000683039.1:c.3042T>C	ENSP00000508303.1:p.Gly1014=
ENST00000683235.1:c.*457T>C	ENSP00000507646.1:n.*457T>C
ENST00000683535.1:n.1172T>C
ENST00000684584.1:c.2205T>C	ENSP00000508044.1:p.Gly735=
ENST00000684626.1:n.1288T>C
ENST00000684769.1:c.1232T>C	ENSP00000507691.1:n.1232T>C
ENST00000259008.7:c.3042T>C MANE Select	ENSP00000259008.2:p.Gly1014=
ENST00000259008.6:c.3042T>C	ENSP00000259008.2:p.Gly1014=
NM_032043.2:c.3042T>C , LRG_300t1:c.3042T>C	NP_114432.2:p.Gly1014=
XM_011525332.1:c.3102T>C	XP_011523634.1:p.Gly1034=
XM_011525333.1:c.3102T>C	XP_011523635.1:p.Gly1034=
XM_011525334.1:c.3102T>C	XP_011523636.1:p.Gly1034=
XM_011525335.1:c.3042T>C	XP_011523637.1:p.Gly1014=
XM_011525336.1:c.2982T>C	XP_011523638.1:p.Gly994=
XM_011525337.1:c.2901T>C	XP_011523639.1:p.Gly967=
XM_011525338.1:c.2619T>C	XP_011523640.1:p.Gly873=
XM_011525332.3:c.3102T>C	XP_011523634.1:p.Gly1034=
XM_011525333.3:c.3102T>C	XP_011523635.1:p.Gly1034=
XM_011525334.2:c.3102T>C	XP_011523636.1:p.Gly1034=
XM_011525335.3:c.3042T>C	XP_011523637.1:p.Gly1014=
XM_011525336.2:c.2982T>C	XP_011523638.1:p.Gly994=
XM_011525337.2:c.2901T>C	XP_011523639.1:p.Gly967=
XM_011525338.2:c.2619T>C	XP_011523640.1:p.Gly873=
XM_017025200.1:c.2559T>C	XP_016880689.1:p.Gly853=
XM_017025201.1:c.2559T>C	XP_016880690.1:p.Gly853=
XM_017025202.1:c.1188T>C	XP_016880691.1:p.Gly396=
XM_017025203.1:c.1188T>C	XP_016880692.1:p.Gly396=
NM_032043.3:c.3042T>C MANE Select	NP_114432.2:p.Gly1014=