Canonical Allele Identifier: CA400478044

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1733227
• ClinVar RCV Id: RCV002455340
• MyVariant Identifiers: chr17:g.59760797T>G (hg19) ; chr17:g.61683436T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683436T>G , CM000679.2:g.61683436T>G	GRCh38
NC_000017.10:g.59760797T>G , CM000679.1:g.59760797T>G	GRCh37
NC_000017.9:g.57115579T>G	NCBI36
NG_007409.2:g.185124A>C , LRG_300:g.185124A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2350A>C
ENST00000682453.1:c.3610A>C	ENSP00000506943.1:p.Ser1204Arg
ENST00000682477.1:c.*3036A>C	ENSP00000507075.1:n.*3036A>C
ENST00000682589.1:n.9487A>C
ENST00000682755.1:c.3388A>C	ENSP00000507660.1:p.Ser1130Arg
ENST00000682989.1:c.*701A>C	ENSP00000507786.1:n.*701A>C
ENST00000683039.1:c.3610A>C	ENSP00000508303.1:p.Ser1204Arg
ENST00000683235.1:c.*1025A>C	ENSP00000507646.1:n.*1025A>C
ENST00000683535.1:n.1740A>C
ENST00000684584.1:c.2773A>C	ENSP00000508044.1:p.Ser925Arg
ENST00000684626.1:n.1856A>C
ENST00000684769.1:c.1800A>C	ENSP00000507691.1:n.1800A>C
ENST00000259008.7:c.3610A>C MANE Select	ENSP00000259008.2:p.Ser1204Arg
ENST00000259008.6:c.3610A>C	ENSP00000259008.2:p.Ser1204Arg
NM_032043.2:c.3610A>C , LRG_300t1:c.3610A>C	NP_114432.2:p.Ser1204Arg
XM_011525332.1:c.3670A>C	XP_011523634.1:p.Ser1224Arg
XM_011525333.1:c.3670A>C	XP_011523635.1:p.Ser1224Arg
XM_011525334.1:c.3670A>C	XP_011523636.1:p.Ser1224Arg
XM_011525335.1:c.3610A>C	XP_011523637.1:p.Ser1204Arg
XM_011525336.1:c.3550A>C	XP_011523638.1:p.Ser1184Arg
XM_011525337.1:c.3469A>C	XP_011523639.1:p.Ser1157Arg
XM_011525338.1:c.3187A>C	XP_011523640.1:p.Ser1063Arg
XM_011525332.3:c.3670A>C	XP_011523634.1:p.Ser1224Arg
XM_011525333.3:c.3670A>C	XP_011523635.1:p.Ser1224Arg
XM_011525334.2:c.3670A>C	XP_011523636.1:p.Ser1224Arg
XM_011525335.3:c.3610A>C	XP_011523637.1:p.Ser1204Arg
XM_011525336.2:c.3550A>C	XP_011523638.1:p.Ser1184Arg
XM_011525337.2:c.3469A>C	XP_011523639.1:p.Ser1157Arg
XM_011525338.2:c.3187A>C	XP_011523640.1:p.Ser1063Arg
XM_017025200.1:c.3127A>C	XP_016880689.1:p.Ser1043Arg
XM_017025201.1:c.3127A>C	XP_016880690.1:p.Ser1043Arg
XM_017025202.1:c.1756A>C	XP_016880691.1:p.Ser586Arg
XM_017025203.1:c.1756A>C	XP_016880692.1:p.Ser586Arg
NM_032043.3:c.3610A>C MANE Select	NP_114432.2:p.Ser1204Arg