Canonical Allele Identifier: CA8690550

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 230681
• ClinVar RCV Id: RCV000215983 ; RCV000636177 ; RCV002286722
• dbSNP Id: rs747568830
• ExAC: 17:59820423 C / T
• gnomAD v2: 17-59820423-C-T
• gnomAD v3: 17-61743062-C-T
• gnomAD v4: 17-61743062-C-T
• COSMIC: COSM1243106 ; COSM1243107
• MyVariant Identifiers: chr17:g.59820423C>T (hg19) ; chr17:g.61743062C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743062C>T , CM000679.2:g.61743062C>T	GRCh38
NC_000017.10:g.59820423C>T , CM000679.1:g.59820423C>T	GRCh37
NC_000017.9:g.57175205C>T	NCBI36
NG_007409.2:g.125498G>A , LRG_300:g.125498G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2330G>A	ENSP00000463272.2:p.Arg777His
ENST00000682066.1:c.2460G>A	ENSP00000507191.1:n.2460G>A
ENST00000682073.1:n.1070G>A
ENST00000682433.1:n.1409G>A
ENST00000682453.1:c.2330G>A	ENSP00000506943.1:p.Arg777His
ENST00000682477.1:c.*1756G>A	ENSP00000507075.1:n.*1756G>A
ENST00000682589.1:n.8207G>A
ENST00000682755.1:c.2108G>A	ENSP00000507660.1:p.Arg703His
ENST00000682989.1:c.2330G>A	ENSP00000507786.1:p.Arg777His
ENST00000683039.1:c.2330G>A	ENSP00000508303.1:p.Arg777His
ENST00000683235.1:c.2330G>A	ENSP00000507646.1:p.Arg777His
ENST00000683381.1:c.2390G>A	ENSP00000508184.1:p.Arg797His
ENST00000683535.1:n.460G>A
ENST00000684471.1:n.743G>A
ENST00000684584.1:c.1823G>A	ENSP00000508044.1:p.Arg608His
ENST00000684769.1:c.395G>A	ENSP00000507691.1:p.Arg132His
ENST00000259008.7:c.2330G>A MANE Select	ENSP00000259008.2:p.Arg777His
ENST00000259008.6:c.2330G>A	ENSP00000259008.2:p.Arg777His
ENST00000577598.5:c.2330G>A	ENSP00000464654.1:p.Arg777His
ENST00000584322.1:c.313G>A
NM_032043.2:c.2330G>A , LRG_300t1:c.2330G>A	NP_114432.2:p.Arg777His
XM_011525332.1:c.2390G>A	XP_011523634.1:p.Arg797His
XM_011525333.1:c.2390G>A	XP_011523635.1:p.Arg797His
XM_011525334.1:c.2390G>A	XP_011523636.1:p.Arg797His
XM_011525335.1:c.2330G>A	XP_011523637.1:p.Arg777His
XM_011525336.1:c.2270G>A	XP_011523638.1:p.Arg757His
XM_011525337.1:c.2189G>A	XP_011523639.1:p.Arg730His
XM_011525338.1:c.1907G>A	XP_011523640.1:p.Arg636His
XM_011525339.1:c.2390G>A	XP_011523641.1:p.Arg797His
XM_011525340.1:c.2390G>A	XP_011523642.1:p.Arg797His
XR_934894.1:n.524-1119C>T
XM_011525332.3:c.2390G>A	XP_011523634.1:p.Arg797His
XM_011525333.3:c.2390G>A	XP_011523635.1:p.Arg797His
XM_011525334.2:c.2390G>A	XP_011523636.1:p.Arg797His
XM_011525335.3:c.2330G>A	XP_011523637.1:p.Arg777His
XM_011525336.2:c.2270G>A	XP_011523638.1:p.Arg757His
XM_011525337.2:c.2189G>A	XP_011523639.1:p.Arg730His
XM_011525338.2:c.1907G>A	XP_011523640.1:p.Arg636His
XM_011525339.3:c.2390G>A	XP_011523641.1:p.Arg797His
XM_011525340.3:c.2390G>A	XP_011523642.1:p.Arg797His
XM_017025200.1:c.1847G>A	XP_016880689.1:p.Arg616His
XM_017025201.1:c.1847G>A	XP_016880690.1:p.Arg616His
XM_017025202.1:c.476G>A	XP_016880691.1:p.Arg159His
XM_017025203.1:c.476G>A	XP_016880692.1:p.Arg159His
NM_032043.3:c.2330G>A MANE Select	NP_114432.2:p.Arg777His