Canonical Allele Identifier: CA8690391

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 837927
• ClinVar RCV Id: RCV001039369 ; RCV002320245
• dbSNP Id: rs778430337
• ExAC: 17:59761226 T / G
• gnomAD v2: 17-59761226-T-G
• gnomAD v4: 17-61683865-T-G
• MyVariant Identifiers: chr17:g.59761226T>G (hg19) ; chr17:g.61683865T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683865T>G , CM000679.2:g.61683865T>G	GRCh38
NC_000017.10:g.59761226T>G , CM000679.1:g.59761226T>G	GRCh37
NC_000017.9:g.57116008T>G	NCBI36
NG_007409.2:g.184695A>C , LRG_300:g.184695A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1921A>C
ENST00000682453.1:c.3181A>C	ENSP00000506943.1:p.Asn1061His
ENST00000682477.1:c.*2607A>C	ENSP00000507075.1:n.*2607A>C
ENST00000682589.1:n.9058A>C
ENST00000682755.1:c.2959A>C	ENSP00000507660.1:p.Asn987His
ENST00000682989.1:c.*272A>C	ENSP00000507786.1:n.*272A>C
ENST00000683039.1:c.3181A>C	ENSP00000508303.1:p.Asn1061His
ENST00000683235.1:c.*596A>C	ENSP00000507646.1:n.*596A>C
ENST00000683535.1:n.1311A>C
ENST00000684584.1:c.2344A>C	ENSP00000508044.1:p.Asn782His
ENST00000684626.1:n.1427A>C
ENST00000684769.1:c.1371A>C	ENSP00000507691.1:n.1371A>C
ENST00000259008.7:c.3181A>C MANE Select	ENSP00000259008.2:p.Asn1061His
ENST00000259008.6:c.3181A>C	ENSP00000259008.2:p.Asn1061His
NM_032043.2:c.3181A>C , LRG_300t1:c.3181A>C	NP_114432.2:p.Asn1061His
XM_011525332.1:c.3241A>C	XP_011523634.1:p.Asn1081His
XM_011525333.1:c.3241A>C	XP_011523635.1:p.Asn1081His
XM_011525334.1:c.3241A>C	XP_011523636.1:p.Asn1081His
XM_011525335.1:c.3181A>C	XP_011523637.1:p.Asn1061His
XM_011525336.1:c.3121A>C	XP_011523638.1:p.Asn1041His
XM_011525337.1:c.3040A>C	XP_011523639.1:p.Asn1014His
XM_011525338.1:c.2758A>C	XP_011523640.1:p.Asn920His
XM_011525332.3:c.3241A>C	XP_011523634.1:p.Asn1081His
XM_011525333.3:c.3241A>C	XP_011523635.1:p.Asn1081His
XM_011525334.2:c.3241A>C	XP_011523636.1:p.Asn1081His
XM_011525335.3:c.3181A>C	XP_011523637.1:p.Asn1061His
XM_011525336.2:c.3121A>C	XP_011523638.1:p.Asn1041His
XM_011525337.2:c.3040A>C	XP_011523639.1:p.Asn1014His
XM_011525338.2:c.2758A>C	XP_011523640.1:p.Asn920His
XM_017025200.1:c.2698A>C	XP_016880689.1:p.Asn900His
XM_017025201.1:c.2698A>C	XP_016880690.1:p.Asn900His
XM_017025202.1:c.1327A>C	XP_016880691.1:p.Asn443His
XM_017025203.1:c.1327A>C	XP_016880692.1:p.Asn443His
NM_032043.3:c.3181A>C MANE Select	NP_114432.2:p.Asn1061His