Canonical Allele Identifier: CA400479122

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1729449
• ClinVar RCV Id: RCV002324908
• dbSNP Id: rs1567728589
• MyVariant Identifiers: chr17:g.59761153C>A (hg19) ; chr17:g.61683792C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683792C>A , CM000679.2:g.61683792C>A	GRCh38
NC_000017.10:g.59761153C>A , CM000679.1:g.59761153C>A	GRCh37
NC_000017.9:g.57115935C>A	NCBI36
NG_007409.2:g.184768G>T , LRG_300:g.184768G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1994G>T
ENST00000682453.1:c.3254G>T	ENSP00000506943.1:p.Arg1085Ile
ENST00000682477.1:c.*2680G>T	ENSP00000507075.1:n.*2680G>T
ENST00000682589.1:n.9131G>T
ENST00000682755.1:c.3032G>T	ENSP00000507660.1:p.Arg1011Ile
ENST00000682989.1:c.*345G>T	ENSP00000507786.1:n.*345G>T
ENST00000683039.1:c.3254G>T	ENSP00000508303.1:p.Arg1085Ile
ENST00000683235.1:c.*669G>T	ENSP00000507646.1:n.*669G>T
ENST00000683535.1:n.1384G>T
ENST00000684584.1:c.2417G>T	ENSP00000508044.1:p.Arg806Ile
ENST00000684626.1:n.1500G>T
ENST00000684769.1:c.1444G>T	ENSP00000507691.1:n.1444G>T
ENST00000259008.7:c.3254G>T MANE Select	ENSP00000259008.2:p.Arg1085Ile
ENST00000259008.6:c.3254G>T	ENSP00000259008.2:p.Arg1085Ile
NM_032043.2:c.3254G>T , LRG_300t1:c.3254G>T	NP_114432.2:p.Arg1085Ile
XM_011525332.1:c.3314G>T	XP_011523634.1:p.Arg1105Ile
XM_011525333.1:c.3314G>T	XP_011523635.1:p.Arg1105Ile
XM_011525334.1:c.3314G>T	XP_011523636.1:p.Arg1105Ile
XM_011525335.1:c.3254G>T	XP_011523637.1:p.Arg1085Ile
XM_011525336.1:c.3194G>T	XP_011523638.1:p.Arg1065Ile
XM_011525337.1:c.3113G>T	XP_011523639.1:p.Arg1038Ile
XM_011525338.1:c.2831G>T	XP_011523640.1:p.Arg944Ile
XM_011525332.3:c.3314G>T	XP_011523634.1:p.Arg1105Ile
XM_011525333.3:c.3314G>T	XP_011523635.1:p.Arg1105Ile
XM_011525334.2:c.3314G>T	XP_011523636.1:p.Arg1105Ile
XM_011525335.3:c.3254G>T	XP_011523637.1:p.Arg1085Ile
XM_011525336.2:c.3194G>T	XP_011523638.1:p.Arg1065Ile
XM_011525337.2:c.3113G>T	XP_011523639.1:p.Arg1038Ile
XM_011525338.2:c.2831G>T	XP_011523640.1:p.Arg944Ile
XM_017025200.1:c.2771G>T	XP_016880689.1:p.Arg924Ile
XM_017025201.1:c.2771G>T	XP_016880690.1:p.Arg924Ile
XM_017025202.1:c.1400G>T	XP_016880691.1:p.Arg467Ile
XM_017025203.1:c.1400G>T	XP_016880692.1:p.Arg467Ile
NM_032043.3:c.3254G>T MANE Select	NP_114432.2:p.Arg1085Ile