Canonical Allele Identifier: CA400479878

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1799437
• ClinVar RCV Id: RCV002444284
• dbSNP Id: rs2144089488
• gnomAD v4: 17-61683979-G-A
• MyVariant Identifiers: chr17:g.59761340G>A (hg19) ; chr17:g.61683979G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683979G>A , CM000679.2:g.61683979G>A	GRCh38
NC_000017.10:g.59761340G>A , CM000679.1:g.59761340G>A	GRCh37
NC_000017.9:g.57116122G>A	NCBI36
NG_007409.2:g.184581C>T , LRG_300:g.184581C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682073.1:n.1807C>T
ENST00000682453.1:c.3067C>T	ENSP00000506943.1:p.Leu1023Phe
ENST00000682477.1:c.*2493C>T	ENSP00000507075.1:n.*2493C>T
ENST00000682589.1:n.8944C>T
ENST00000682755.1:c.2845C>T	ENSP00000507660.1:p.Leu949Phe
ENST00000682989.1:c.*158C>T	ENSP00000507786.1:n.*158C>T
ENST00000683039.1:c.3067C>T	ENSP00000508303.1:p.Leu1023Phe
ENST00000683235.1:c.*482C>T	ENSP00000507646.1:n.*482C>T
ENST00000683535.1:n.1197C>T
ENST00000684584.1:c.2230C>T	ENSP00000508044.1:p.Leu744Phe
ENST00000684626.1:n.1313C>T
ENST00000684769.1:c.1257C>T	ENSP00000507691.1:n.1257C>T
ENST00000259008.7:c.3067C>T MANE Select	ENSP00000259008.2:p.Leu1023Phe
ENST00000259008.6:c.3067C>T	ENSP00000259008.2:p.Leu1023Phe
NM_032043.2:c.3067C>T , LRG_300t1:c.3067C>T	NP_114432.2:p.Leu1023Phe
XM_011525332.1:c.3127C>T	XP_011523634.1:p.Leu1043Phe
XM_011525333.1:c.3127C>T	XP_011523635.1:p.Leu1043Phe
XM_011525334.1:c.3127C>T	XP_011523636.1:p.Leu1043Phe
XM_011525335.1:c.3067C>T	XP_011523637.1:p.Leu1023Phe
XM_011525336.1:c.3007C>T	XP_011523638.1:p.Leu1003Phe
XM_011525337.1:c.2926C>T	XP_011523639.1:p.Leu976Phe
XM_011525338.1:c.2644C>T	XP_011523640.1:p.Leu882Phe
XM_011525332.3:c.3127C>T	XP_011523634.1:p.Leu1043Phe
XM_011525333.3:c.3127C>T	XP_011523635.1:p.Leu1043Phe
XM_011525334.2:c.3127C>T	XP_011523636.1:p.Leu1043Phe
XM_011525335.3:c.3067C>T	XP_011523637.1:p.Leu1023Phe
XM_011525336.2:c.3007C>T	XP_011523638.1:p.Leu1003Phe
XM_011525337.2:c.2926C>T	XP_011523639.1:p.Leu976Phe
XM_011525338.2:c.2644C>T	XP_011523640.1:p.Leu882Phe
XM_017025200.1:c.2584C>T	XP_016880689.1:p.Leu862Phe
XM_017025201.1:c.2584C>T	XP_016880690.1:p.Leu862Phe
XM_017025202.1:c.1213C>T	XP_016880691.1:p.Leu405Phe
XM_017025203.1:c.1213C>T	XP_016880692.1:p.Leu405Phe
NM_032043.3:c.3067C>T MANE Select	NP_114432.2:p.Leu1023Phe