Canonical Allele Identifier: CA400479061

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 853157
• ClinVar RCV Id: RCV001057916
• dbSNP Id: rs2061313248
• MyVariant Identifiers: chr17:g.59761124A>G (hg19) ; chr17:g.61683763A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683763A>G , CM000679.2:g.61683763A>G	GRCh38
NC_000017.10:g.59761124A>G , CM000679.1:g.59761124A>G	GRCh37
NC_000017.9:g.57115906A>G	NCBI36
NG_007409.2:g.184797T>C , LRG_300:g.184797T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2023T>C
ENST00000682453.1:c.3283T>C	ENSP00000506943.1:p.Ser1095Pro
ENST00000682477.1:c.*2709T>C	ENSP00000507075.1:n.*2709T>C
ENST00000682589.1:n.9160T>C
ENST00000682755.1:c.3061T>C	ENSP00000507660.1:p.Ser1021Pro
ENST00000682989.1:c.*374T>C	ENSP00000507786.1:n.*374T>C
ENST00000683039.1:c.3283T>C	ENSP00000508303.1:p.Ser1095Pro
ENST00000683235.1:c.*698T>C	ENSP00000507646.1:n.*698T>C
ENST00000683535.1:n.1413T>C
ENST00000684584.1:c.2446T>C	ENSP00000508044.1:p.Ser816Pro
ENST00000684626.1:n.1529T>C
ENST00000684769.1:c.1473T>C	ENSP00000507691.1:n.1473T>C
ENST00000259008.7:c.3283T>C MANE Select	ENSP00000259008.2:p.Ser1095Pro
ENST00000259008.6:c.3283T>C	ENSP00000259008.2:p.Ser1095Pro
NM_032043.2:c.3283T>C , LRG_300t1:c.3283T>C	NP_114432.2:p.Ser1095Pro
XM_011525332.1:c.3343T>C	XP_011523634.1:p.Ser1115Pro
XM_011525333.1:c.3343T>C	XP_011523635.1:p.Ser1115Pro
XM_011525334.1:c.3343T>C	XP_011523636.1:p.Ser1115Pro
XM_011525335.1:c.3283T>C	XP_011523637.1:p.Ser1095Pro
XM_011525336.1:c.3223T>C	XP_011523638.1:p.Ser1075Pro
XM_011525337.1:c.3142T>C	XP_011523639.1:p.Ser1048Pro
XM_011525338.1:c.2860T>C	XP_011523640.1:p.Ser954Pro
XM_011525332.3:c.3343T>C	XP_011523634.1:p.Ser1115Pro
XM_011525333.3:c.3343T>C	XP_011523635.1:p.Ser1115Pro
XM_011525334.2:c.3343T>C	XP_011523636.1:p.Ser1115Pro
XM_011525335.3:c.3283T>C	XP_011523637.1:p.Ser1095Pro
XM_011525336.2:c.3223T>C	XP_011523638.1:p.Ser1075Pro
XM_011525337.2:c.3142T>C	XP_011523639.1:p.Ser1048Pro
XM_011525338.2:c.2860T>C	XP_011523640.1:p.Ser954Pro
XM_017025200.1:c.2800T>C	XP_016880689.1:p.Ser934Pro
XM_017025201.1:c.2800T>C	XP_016880690.1:p.Ser934Pro
XM_017025202.1:c.1429T>C	XP_016880691.1:p.Ser477Pro
XM_017025203.1:c.1429T>C	XP_016880692.1:p.Ser477Pro
NM_032043.3:c.3283T>C MANE Select	NP_114432.2:p.Ser1095Pro