Canonical Allele Identifier: CA8690444

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 481621
• ClinVar RCV Id: RCV000565993 ; RCV001571712 ; RCV000636100
• dbSNP Id: rs373835270
• ExAC: 17:59763193 A / G
• gnomAD v2: 17-59763193-A-G
• gnomAD v3: 17-61685832-A-G
• gnomAD v4: 17-61685832-A-G
• MyVariant Identifiers: chr17:g.59763193A>G (hg19) ; chr17:g.61685832A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685832A>G , CM000679.2:g.61685832A>G	GRCh38
NC_000017.10:g.59763193A>G , CM000679.1:g.59763193A>G	GRCh37
NC_000017.9:g.57117975A>G	NCBI36
NG_007409.2:g.182728T>C , LRG_300:g.182728T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.3039T>C	ENSP00000507191.1:n.3039T>C
ENST00000682073.1:n.1645+4T>C
ENST00000682433.1:n.1988T>C
ENST00000682453.1:c.2905+4T>C	ENSP00000506943.1:n.2905+4T>C
ENST00000682477.1:c.*2331+4T>C	ENSP00000507075.1:n.*2331+4T>C
ENST00000682589.1:n.8782+4T>C
ENST00000682755.1:c.2683+4T>C	ENSP00000507660.1:n.2683+4T>C
ENST00000682989.1:c.2610-1692T>C	ENSP00000507786.1:n.2610-1692T>C
ENST00000683039.1:c.2905+4T>C	ENSP00000508303.1:n.2905+4T>C
ENST00000683235.1:c.*320+4T>C	ENSP00000507646.1:n.*320+4T>C
ENST00000683535.1:n.1035+4T>C
ENST00000684471.1:n.1322T>C
ENST00000684584.1:c.2069-1692T>C	ENSP00000508044.1:n.2069-1692T>C
ENST00000684626.1:n.1151+4T>C
ENST00000684769.1:c.1095+4T>C	ENSP00000507691.1:n.1095+4T>C
ENST00000259008.7:c.2905+4T>C MANE Select	ENSP00000259008.2:n.2905+4T>C
ENST00000259008.6:c.2905+4T>C	ENSP00000259008.2:n.2905+4T>C
ENST00000577598.5:c.2909T>C	ENSP00000464654.1:p.Met970Thr
NM_032043.2:c.2905+4T>C , LRG_300t1:c.2905+4T>C	NP_114432.2:n.2905+4T>C
XM_011525332.1:c.2965+4T>C	XP_011523634.1:n.2965+4T>C
XM_011525333.1:c.2965+4T>C	XP_011523635.1:n.2965+4T>C
XM_011525334.1:c.2965+4T>C	XP_011523636.1:n.2965+4T>C
XM_011525335.1:c.2905+4T>C	XP_011523637.1:n.2905+4T>C
XM_011525336.1:c.2845+4T>C	XP_011523638.1:n.2845+4T>C
XM_011525337.1:c.2764+4T>C	XP_011523639.1:n.2764+4T>C
XM_011525338.1:c.2482+4T>C	XP_011523640.1:n.2482+4T>C
XM_011525332.3:c.2965+4T>C	XP_011523634.1:n.2965+4T>C
XM_011525333.3:c.2965+4T>C	XP_011523635.1:n.2965+4T>C
XM_011525334.2:c.2965+4T>C	XP_011523636.1:n.2965+4T>C
XM_011525335.3:c.2905+4T>C	XP_011523637.1:n.2905+4T>C
XM_011525336.2:c.2845+4T>C	XP_011523638.1:n.2845+4T>C
XM_011525337.2:c.2764+4T>C	XP_011523639.1:n.2764+4T>C
XM_011525338.2:c.2482+4T>C	XP_011523640.1:n.2482+4T>C
XM_017025200.1:c.2422+4T>C	XP_016880689.1:n.2422+4T>C
XM_017025201.1:c.2422+4T>C	XP_016880690.1:n.2422+4T>C
XM_017025202.1:c.1051+4T>C	XP_016880691.1:n.1051+4T>C
XM_017025203.1:c.1051+4T>C	XP_016880692.1:n.1051+4T>C
NM_032043.3:c.2905+4T>C MANE Select	NP_114432.2:n.2905+4T>C