Canonical Allele Identifier: CA400480046

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 489830
• ClinVar RCV Id: RCV000579973
• dbSNP Id: rs1555572922
• MyVariant Identifiers: chr17:g.59761414T>A (hg19) ; chr17:g.61684053T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61684053T>A , CM000679.2:g.61684053T>A	GRCh38
NC_000017.10:g.59761414T>A , CM000679.1:g.59761414T>A	GRCh37
NC_000017.9:g.57116196T>A	NCBI36
NG_007409.2:g.184507A>T , LRG_300:g.184507A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1733A>T
ENST00000682453.1:c.2993A>T	ENSP00000506943.1:p.Lys998Met
ENST00000682477.1:c.*2419A>T	ENSP00000507075.1:n.*2419A>T
ENST00000682589.1:n.8870A>T
ENST00000682755.1:c.2771A>T	ENSP00000507660.1:p.Lys924Met
ENST00000682989.1:c.*84A>T	ENSP00000507786.1:n.*84A>T
ENST00000683039.1:c.2993A>T	ENSP00000508303.1:p.Lys998Met
ENST00000683235.1:c.*408A>T	ENSP00000507646.1:n.*408A>T
ENST00000683535.1:n.1123A>T
ENST00000684584.1:c.2156A>T	ENSP00000508044.1:p.Lys719Met
ENST00000684626.1:n.1239A>T
ENST00000684769.1:c.1183A>T	ENSP00000507691.1:n.1183A>T
ENST00000259008.7:c.2993A>T MANE Select	ENSP00000259008.2:p.Lys998Met
ENST00000259008.6:c.2993A>T	ENSP00000259008.2:p.Lys998Met
NM_032043.2:c.2993A>T , LRG_300t1:c.2993A>T	NP_114432.2:p.Lys998Met
XM_011525332.1:c.3053A>T	XP_011523634.1:p.Lys1018Met
XM_011525333.1:c.3053A>T	XP_011523635.1:p.Lys1018Met
XM_011525334.1:c.3053A>T	XP_011523636.1:p.Lys1018Met
XM_011525335.1:c.2993A>T	XP_011523637.1:p.Lys998Met
XM_011525336.1:c.2933A>T	XP_011523638.1:p.Lys978Met
XM_011525337.1:c.2852A>T	XP_011523639.1:p.Lys951Met
XM_011525338.1:c.2570A>T	XP_011523640.1:p.Lys857Met
XM_011525332.3:c.3053A>T	XP_011523634.1:p.Lys1018Met
XM_011525333.3:c.3053A>T	XP_011523635.1:p.Lys1018Met
XM_011525334.2:c.3053A>T	XP_011523636.1:p.Lys1018Met
XM_011525335.3:c.2993A>T	XP_011523637.1:p.Lys998Met
XM_011525336.2:c.2933A>T	XP_011523638.1:p.Lys978Met
XM_011525337.2:c.2852A>T	XP_011523639.1:p.Lys951Met
XM_011525338.2:c.2570A>T	XP_011523640.1:p.Lys857Met
XM_017025200.1:c.2510A>T	XP_016880689.1:p.Lys837Met
XM_017025201.1:c.2510A>T	XP_016880690.1:p.Lys837Met
XM_017025202.1:c.1139A>T	XP_016880691.1:p.Lys380Met
XM_017025203.1:c.1139A>T	XP_016880692.1:p.Lys380Met
NM_032043.3:c.2993A>T MANE Select	NP_114432.2:p.Lys998Met