Canonical Allele Identifier: CA501335512

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 822688
• ClinVar RCV Id: RCV001018246 ; RCV001397758 ; RCV003425882
• dbSNP Id: rs863224803
• gnomAD v2: 17-59761368-A-G
• gnomAD v3: 17-61684007-A-G
• gnomAD v4: 17-61684007-A-G
• MyVariant Identifiers: chr17:g.59761368A>G (hg19) ; chr17:g.61684007A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61684007A>G , CM000679.2:g.61684007A>G	GRCh38
NC_000017.10:g.59761368A>G , CM000679.1:g.59761368A>G	GRCh37
NC_000017.9:g.57116150A>G	NCBI36
NG_007409.2:g.184553T>C , LRG_300:g.184553T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1779T>C
ENST00000682453.1:c.3039T>C	ENSP00000506943.1:p.Thr1013=
ENST00000682477.1:c.*2465T>C	ENSP00000507075.1:n.*2465T>C
ENST00000682589.1:n.8916T>C
ENST00000682755.1:c.2817T>C	ENSP00000507660.1:p.Thr939=
ENST00000682989.1:c.*130T>C	ENSP00000507786.1:n.*130T>C
ENST00000683039.1:c.3039T>C	ENSP00000508303.1:p.Thr1013=
ENST00000683235.1:c.*454T>C	ENSP00000507646.1:n.*454T>C
ENST00000683535.1:n.1169T>C
ENST00000684584.1:c.2202T>C	ENSP00000508044.1:p.Thr734=
ENST00000684626.1:n.1285T>C
ENST00000684769.1:c.1229T>C	ENSP00000507691.1:n.1229T>C
ENST00000259008.7:c.3039T>C MANE Select	ENSP00000259008.2:p.Thr1013=
ENST00000259008.6:c.3039T>C	ENSP00000259008.2:p.Thr1013=
NM_032043.2:c.3039T>C , LRG_300t1:c.3039T>C	NP_114432.2:p.Thr1013=
XM_011525332.1:c.3099T>C	XP_011523634.1:p.Thr1033=
XM_011525333.1:c.3099T>C	XP_011523635.1:p.Thr1033=
XM_011525334.1:c.3099T>C	XP_011523636.1:p.Thr1033=
XM_011525335.1:c.3039T>C	XP_011523637.1:p.Thr1013=
XM_011525336.1:c.2979T>C	XP_011523638.1:p.Thr993=
XM_011525337.1:c.2898T>C	XP_011523639.1:p.Thr966=
XM_011525338.1:c.2616T>C	XP_011523640.1:p.Thr872=
XM_011525332.3:c.3099T>C	XP_011523634.1:p.Thr1033=
XM_011525333.3:c.3099T>C	XP_011523635.1:p.Thr1033=
XM_011525334.2:c.3099T>C	XP_011523636.1:p.Thr1033=
XM_011525335.3:c.3039T>C	XP_011523637.1:p.Thr1013=
XM_011525336.2:c.2979T>C	XP_011523638.1:p.Thr993=
XM_011525337.2:c.2898T>C	XP_011523639.1:p.Thr966=
XM_011525338.2:c.2616T>C	XP_011523640.1:p.Thr872=
XM_017025200.1:c.2556T>C	XP_016880689.1:p.Thr852=
XM_017025201.1:c.2556T>C	XP_016880690.1:p.Thr852=
XM_017025202.1:c.1185T>C	XP_016880691.1:p.Thr395=
XM_017025203.1:c.1185T>C	XP_016880692.1:p.Thr395=
NM_032043.3:c.3039T>C MANE Select	NP_114432.2:p.Thr1013=