Canonical Allele Identifier: CA400479359

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1046186
• ClinVar RCV Id: RCV001350707 ; RCV003294378
• dbSNP Id: rs1199327421
• gnomAD v4: 17-61683850-A-G
• MyVariant Identifiers: chr17:g.59761211A>G (hg19) ; chr17:g.61683850A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683850A>G , CM000679.2:g.61683850A>G	GRCh38
NC_000017.10:g.59761211A>G , CM000679.1:g.59761211A>G	GRCh37
NC_000017.9:g.57115993A>G	NCBI36
NG_007409.2:g.184710T>C , LRG_300:g.184710T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1936T>C
ENST00000682453.1:c.3196T>C	ENSP00000506943.1:p.Ser1066Pro
ENST00000682477.1:c.*2622T>C	ENSP00000507075.1:n.*2622T>C
ENST00000682589.1:n.9073T>C
ENST00000682755.1:c.2974T>C	ENSP00000507660.1:p.Ser992Pro
ENST00000682989.1:c.*287T>C	ENSP00000507786.1:n.*287T>C
ENST00000683039.1:c.3196T>C	ENSP00000508303.1:p.Ser1066Pro
ENST00000683235.1:c.*611T>C	ENSP00000507646.1:n.*611T>C
ENST00000683535.1:n.1326T>C
ENST00000684584.1:c.2359T>C	ENSP00000508044.1:p.Ser787Pro
ENST00000684626.1:n.1442T>C
ENST00000684769.1:c.1386T>C	ENSP00000507691.1:n.1386T>C
ENST00000259008.7:c.3196T>C MANE Select	ENSP00000259008.2:p.Ser1066Pro
ENST00000259008.6:c.3196T>C	ENSP00000259008.2:p.Ser1066Pro
NM_032043.2:c.3196T>C , LRG_300t1:c.3196T>C	NP_114432.2:p.Ser1066Pro
XM_011525332.1:c.3256T>C	XP_011523634.1:p.Ser1086Pro
XM_011525333.1:c.3256T>C	XP_011523635.1:p.Ser1086Pro
XM_011525334.1:c.3256T>C	XP_011523636.1:p.Ser1086Pro
XM_011525335.1:c.3196T>C	XP_011523637.1:p.Ser1066Pro
XM_011525336.1:c.3136T>C	XP_011523638.1:p.Ser1046Pro
XM_011525337.1:c.3055T>C	XP_011523639.1:p.Ser1019Pro
XM_011525338.1:c.2773T>C	XP_011523640.1:p.Ser925Pro
XM_011525332.3:c.3256T>C	XP_011523634.1:p.Ser1086Pro
XM_011525333.3:c.3256T>C	XP_011523635.1:p.Ser1086Pro
XM_011525334.2:c.3256T>C	XP_011523636.1:p.Ser1086Pro
XM_011525335.3:c.3196T>C	XP_011523637.1:p.Ser1066Pro
XM_011525336.2:c.3136T>C	XP_011523638.1:p.Ser1046Pro
XM_011525337.2:c.3055T>C	XP_011523639.1:p.Ser1019Pro
XM_011525338.2:c.2773T>C	XP_011523640.1:p.Ser925Pro
XM_017025200.1:c.2713T>C	XP_016880689.1:p.Ser905Pro
XM_017025201.1:c.2713T>C	XP_016880690.1:p.Ser905Pro
XM_017025202.1:c.1342T>C	XP_016880691.1:p.Ser448Pro
XM_017025203.1:c.1342T>C	XP_016880692.1:p.Ser448Pro
NM_032043.3:c.3196T>C MANE Select	NP_114432.2:p.Ser1066Pro