Canonical Allele Identifier: CA192372

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 185594
• ClinVar RCV Id: RCV000165041 ; RCV000195896 ; RCV001711335 ; RCV003320128
• dbSNP Id: rs757427210
• ExAC: 17:59761053 A / G
• gnomAD v2: 17-59761053-A-G
• gnomAD v4: 17-61683692-A-G
• MyVariant Identifiers: chr17:g.59761053A>G (hg19) ; chr17:g.61683692A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683692A>G , CM000679.2:g.61683692A>G	GRCh38
NC_000017.10:g.59761053A>G , CM000679.1:g.59761053A>G	GRCh37
NC_000017.9:g.57115835A>G	NCBI36
NG_007409.2:g.184868T>C , LRG_300:g.184868T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2094T>C
ENST00000682453.1:c.3354T>C	ENSP00000506943.1:p.Asn1118=
ENST00000682477.1:c.*2780T>C	ENSP00000507075.1:n.*2780T>C
ENST00000682589.1:n.9231T>C
ENST00000682755.1:c.3132T>C	ENSP00000507660.1:p.Asn1044=
ENST00000682989.1:c.*445T>C	ENSP00000507786.1:n.*445T>C
ENST00000683039.1:c.3354T>C	ENSP00000508303.1:p.Asn1118=
ENST00000683235.1:c.*769T>C	ENSP00000507646.1:n.*769T>C
ENST00000683535.1:n.1484T>C
ENST00000684584.1:c.2517T>C	ENSP00000508044.1:p.Asn839=
ENST00000684626.1:n.1600T>C
ENST00000684769.1:c.1544T>C	ENSP00000507691.1:n.1544T>C
ENST00000259008.7:c.3354T>C MANE Select	ENSP00000259008.2:p.Asn1118=
ENST00000259008.6:c.3354T>C	ENSP00000259008.2:p.Asn1118=
NM_032043.2:c.3354T>C , LRG_300t1:c.3354T>C	NP_114432.2:p.Asn1118=
XM_011525332.1:c.3414T>C	XP_011523634.1:p.Asn1138=
XM_011525333.1:c.3414T>C	XP_011523635.1:p.Asn1138=
XM_011525334.1:c.3414T>C	XP_011523636.1:p.Asn1138=
XM_011525335.1:c.3354T>C	XP_011523637.1:p.Asn1118=
XM_011525336.1:c.3294T>C	XP_011523638.1:p.Asn1098=
XM_011525337.1:c.3213T>C	XP_011523639.1:p.Asn1071=
XM_011525338.1:c.2931T>C	XP_011523640.1:p.Asn977=
XM_011525332.3:c.3414T>C	XP_011523634.1:p.Asn1138=
XM_011525333.3:c.3414T>C	XP_011523635.1:p.Asn1138=
XM_011525334.2:c.3414T>C	XP_011523636.1:p.Asn1138=
XM_011525335.3:c.3354T>C	XP_011523637.1:p.Asn1118=
XM_011525336.2:c.3294T>C	XP_011523638.1:p.Asn1098=
XM_011525337.2:c.3213T>C	XP_011523639.1:p.Asn1071=
XM_011525338.2:c.2931T>C	XP_011523640.1:p.Asn977=
XM_017025200.1:c.2871T>C	XP_016880689.1:p.Asn957=
XM_017025201.1:c.2871T>C	XP_016880690.1:p.Asn957=
XM_017025202.1:c.1500T>C	XP_016880691.1:p.Asn500=
XM_017025203.1:c.1500T>C	XP_016880692.1:p.Asn500=
NM_032043.3:c.3354T>C MANE Select	NP_114432.2:p.Asn1118=