Canonical Allele Identifier: CA292267261

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 643619
• ClinVar RCV Id: RCV000797364 ; RCV001187109
• dbSNP Id: rs1034551306
• gnomAD v4: 17-61683624-T-G
• MyVariant Identifiers: chr17:g.59760985T>G (hg19) ; chr17:g.61683624T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683624T>G , CM000679.2:g.61683624T>G	GRCh38
NC_000017.10:g.59760985T>G , CM000679.1:g.59760985T>G	GRCh37
NC_000017.9:g.57115767T>G	NCBI36
NG_007409.2:g.184936A>C , LRG_300:g.184936A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2162A>C
ENST00000682453.1:c.3422A>C	ENSP00000506943.1:p.Asp1141Ala
ENST00000682477.1:c.*2848A>C	ENSP00000507075.1:n.*2848A>C
ENST00000682589.1:n.9299A>C
ENST00000682755.1:c.3200A>C	ENSP00000507660.1:p.Asp1067Ala
ENST00000682989.1:c.*513A>C	ENSP00000507786.1:n.*513A>C
ENST00000683039.1:c.3422A>C	ENSP00000508303.1:p.Asp1141Ala
ENST00000683235.1:c.*837A>C	ENSP00000507646.1:n.*837A>C
ENST00000683535.1:n.1552A>C
ENST00000684584.1:c.2585A>C	ENSP00000508044.1:p.Asp862Ala
ENST00000684626.1:n.1668A>C
ENST00000684769.1:c.1612A>C	ENSP00000507691.1:n.1612A>C
ENST00000259008.7:c.3422A>C MANE Select	ENSP00000259008.2:p.Asp1141Ala
ENST00000259008.6:c.3422A>C	ENSP00000259008.2:p.Asp1141Ala
NM_032043.2:c.3422A>C , LRG_300t1:c.3422A>C	NP_114432.2:p.Asp1141Ala
XM_011525332.1:c.3482A>C	XP_011523634.1:p.Asp1161Ala
XM_011525333.1:c.3482A>C	XP_011523635.1:p.Asp1161Ala
XM_011525334.1:c.3482A>C	XP_011523636.1:p.Asp1161Ala
XM_011525335.1:c.3422A>C	XP_011523637.1:p.Asp1141Ala
XM_011525336.1:c.3362A>C	XP_011523638.1:p.Asp1121Ala
XM_011525337.1:c.3281A>C	XP_011523639.1:p.Asp1094Ala
XM_011525338.1:c.2999A>C	XP_011523640.1:p.Asp1000Ala
XM_011525332.3:c.3482A>C	XP_011523634.1:p.Asp1161Ala
XM_011525333.3:c.3482A>C	XP_011523635.1:p.Asp1161Ala
XM_011525334.2:c.3482A>C	XP_011523636.1:p.Asp1161Ala
XM_011525335.3:c.3422A>C	XP_011523637.1:p.Asp1141Ala
XM_011525336.2:c.3362A>C	XP_011523638.1:p.Asp1121Ala
XM_011525337.2:c.3281A>C	XP_011523639.1:p.Asp1094Ala
XM_011525338.2:c.2999A>C	XP_011523640.1:p.Asp1000Ala
XM_017025200.1:c.2939A>C	XP_016880689.1:p.Asp980Ala
XM_017025201.1:c.2939A>C	XP_016880690.1:p.Asp980Ala
XM_017025202.1:c.1568A>C	XP_016880691.1:p.Asp523Ala
XM_017025203.1:c.1568A>C	XP_016880692.1:p.Asp523Ala
NM_032043.3:c.3422A>C MANE Select	NP_114432.2:p.Asp1141Ala