Canonical Allele Identifier: CA501335122

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1106571
• ClinVar RCV Id: RCV001431348 ; RCV002322451
• dbSNP Id: rs2144079200
• gnomAD v4: 17-61683695-T-C
• MyVariant Identifiers: chr17:g.59761056T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683695T>C , CM000679.2:g.61683695T>C	GRCh38
NC_000017.10:g.59761056T>C , CM000679.1:g.59761056T>C	GRCh37
NC_000017.9:g.57115838T>C	NCBI36
NG_007409.2:g.184865A>G , LRG_300:g.184865A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2091A>G
ENST00000682453.1:c.3351A>G	ENSP00000506943.1:p.Ser1117=
ENST00000682477.1:c.*2777A>G	ENSP00000507075.1:n.*2777A>G
ENST00000682589.1:n.9228A>G
ENST00000682755.1:c.3129A>G	ENSP00000507660.1:p.Ser1043=
ENST00000682989.1:c.*442A>G	ENSP00000507786.1:n.*442A>G
ENST00000683039.1:c.3351A>G	ENSP00000508303.1:p.Ser1117=
ENST00000683235.1:c.*766A>G	ENSP00000507646.1:n.*766A>G
ENST00000683535.1:n.1481A>G
ENST00000684584.1:c.2514A>G	ENSP00000508044.1:p.Ser838=
ENST00000684626.1:n.1597A>G
ENST00000684769.1:c.1541A>G	ENSP00000507691.1:n.1541A>G
ENST00000259008.7:c.3351A>G MANE Select	ENSP00000259008.2:p.Ser1117=
ENST00000259008.6:c.3351A>G	ENSP00000259008.2:p.Ser1117=
NM_032043.2:c.3351A>G , LRG_300t1:c.3351A>G	NP_114432.2:p.Ser1117=
XM_011525332.1:c.3411A>G	XP_011523634.1:p.Ser1137=
XM_011525333.1:c.3411A>G	XP_011523635.1:p.Ser1137=
XM_011525334.1:c.3411A>G	XP_011523636.1:p.Ser1137=
XM_011525335.1:c.3351A>G	XP_011523637.1:p.Ser1117=
XM_011525336.1:c.3291A>G	XP_011523638.1:p.Ser1097=
XM_011525337.1:c.3210A>G	XP_011523639.1:p.Ser1070=
XM_011525338.1:c.2928A>G	XP_011523640.1:p.Ser976=
XM_011525332.3:c.3411A>G	XP_011523634.1:p.Ser1137=
XM_011525333.3:c.3411A>G	XP_011523635.1:p.Ser1137=
XM_011525334.2:c.3411A>G	XP_011523636.1:p.Ser1137=
XM_011525335.3:c.3351A>G	XP_011523637.1:p.Ser1117=
XM_011525336.2:c.3291A>G	XP_011523638.1:p.Ser1097=
XM_011525337.2:c.3210A>G	XP_011523639.1:p.Ser1070=
XM_011525338.2:c.2928A>G	XP_011523640.1:p.Ser976=
XM_017025200.1:c.2868A>G	XP_016880689.1:p.Ser956=
XM_017025201.1:c.2868A>G	XP_016880690.1:p.Ser956=
XM_017025202.1:c.1497A>G	XP_016880691.1:p.Ser499=
XM_017025203.1:c.1497A>G	XP_016880692.1:p.Ser499=
NM_032043.3:c.3351A>G MANE Select	NP_114432.2:p.Ser1117=