Canonical Allele Identifier: CA400478952

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 955075
• ClinVar RCV Id: RCV001227649 ; RCV002322099
• dbSNP Id: rs2061310712
• gnomAD v4: 17-61683709-T-C
• COSMIC: COSM4790378 ; COSM4790379
• MyVariant Identifiers: chr17:g.59761070T>C (hg19) ; chr17:g.61683709T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683709T>C , CM000679.2:g.61683709T>C	GRCh38
NC_000017.10:g.59761070T>C , CM000679.1:g.59761070T>C	GRCh37
NC_000017.9:g.57115852T>C	NCBI36
NG_007409.2:g.184851A>G , LRG_300:g.184851A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2077A>G
ENST00000682453.1:c.3337A>G	ENSP00000506943.1:p.Lys1113Glu
ENST00000682477.1:c.*2763A>G	ENSP00000507075.1:n.*2763A>G
ENST00000682589.1:n.9214A>G
ENST00000682755.1:c.3115A>G	ENSP00000507660.1:p.Lys1039Glu
ENST00000682989.1:c.*428A>G	ENSP00000507786.1:n.*428A>G
ENST00000683039.1:c.3337A>G	ENSP00000508303.1:p.Lys1113Glu
ENST00000683235.1:c.*752A>G	ENSP00000507646.1:n.*752A>G
ENST00000683535.1:n.1467A>G
ENST00000684584.1:c.2500A>G	ENSP00000508044.1:p.Lys834Glu
ENST00000684626.1:n.1583A>G
ENST00000684769.1:c.1527A>G	ENSP00000507691.1:n.1527A>G
ENST00000259008.7:c.3337A>G MANE Select	ENSP00000259008.2:p.Lys1113Glu
ENST00000259008.6:c.3337A>G	ENSP00000259008.2:p.Lys1113Glu
NM_032043.2:c.3337A>G , LRG_300t1:c.3337A>G	NP_114432.2:p.Lys1113Glu
XM_011525332.1:c.3397A>G	XP_011523634.1:p.Lys1133Glu
XM_011525333.1:c.3397A>G	XP_011523635.1:p.Lys1133Glu
XM_011525334.1:c.3397A>G	XP_011523636.1:p.Lys1133Glu
XM_011525335.1:c.3337A>G	XP_011523637.1:p.Lys1113Glu
XM_011525336.1:c.3277A>G	XP_011523638.1:p.Lys1093Glu
XM_011525337.1:c.3196A>G	XP_011523639.1:p.Lys1066Glu
XM_011525338.1:c.2914A>G	XP_011523640.1:p.Lys972Glu
XM_011525332.3:c.3397A>G	XP_011523634.1:p.Lys1133Glu
XM_011525333.3:c.3397A>G	XP_011523635.1:p.Lys1133Glu
XM_011525334.2:c.3397A>G	XP_011523636.1:p.Lys1133Glu
XM_011525335.3:c.3337A>G	XP_011523637.1:p.Lys1113Glu
XM_011525336.2:c.3277A>G	XP_011523638.1:p.Lys1093Glu
XM_011525337.2:c.3196A>G	XP_011523639.1:p.Lys1066Glu
XM_011525338.2:c.2914A>G	XP_011523640.1:p.Lys972Glu
XM_017025200.1:c.2854A>G	XP_016880689.1:p.Lys952Glu
XM_017025201.1:c.2854A>G	XP_016880690.1:p.Lys952Glu
XM_017025202.1:c.1483A>G	XP_016880691.1:p.Lys495Glu
XM_017025203.1:c.1483A>G	XP_016880692.1:p.Lys495Glu
NM_032043.3:c.3337A>G MANE Select	NP_114432.2:p.Lys1113Glu