Canonical Allele Identifier: CA8690546

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1160844
• ClinVar RCV Id: RCV001505138 ; RCV002449336
• dbSNP Id: rs554514054
• ExAC: 17:59820377 T / C
• gnomAD v2: 17-59820377-T-C
• gnomAD v3: 17-61743016-T-C
• gnomAD v4: 17-61743016-T-C
• MyVariant Identifiers: chr17:g.59820377T>C (hg19) ; chr17:g.61743016T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743016T>C , CM000679.2:g.61743016T>C	GRCh38
NC_000017.10:g.59820377T>C , CM000679.1:g.59820377T>C	GRCh37
NC_000017.9:g.57175159T>C	NCBI36
NG_007409.2:g.125544A>G , LRG_300:g.125544A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2376A>G	ENSP00000463272.2:p.Leu792=
ENST00000682066.1:c.2506A>G	ENSP00000507191.1:n.2506A>G
ENST00000682073.1:n.1116A>G
ENST00000682433.1:n.1455A>G
ENST00000682453.1:c.2376A>G	ENSP00000506943.1:p.Leu792=
ENST00000682477.1:c.*1802A>G	ENSP00000507075.1:n.*1802A>G
ENST00000682589.1:n.8253A>G
ENST00000682755.1:c.2154A>G	ENSP00000507660.1:p.Leu718=
ENST00000682989.1:c.2376A>G	ENSP00000507786.1:p.Leu792=
ENST00000683039.1:c.2376A>G	ENSP00000508303.1:p.Leu792=
ENST00000683235.1:c.2376A>G	ENSP00000507646.1:p.Leu792=
ENST00000683381.1:c.2436A>G	ENSP00000508184.1:p.Leu812=
ENST00000683535.1:n.506A>G
ENST00000684471.1:n.789A>G
ENST00000684584.1:c.1869A>G	ENSP00000508044.1:p.Leu623=
ENST00000684769.1:c.441A>G	ENSP00000507691.1:p.Leu147=
ENST00000259008.7:c.2376A>G MANE Select	ENSP00000259008.2:p.Leu792=
ENST00000259008.6:c.2376A>G	ENSP00000259008.2:p.Leu792=
ENST00000577598.5:c.2376A>G	ENSP00000464654.1:p.Leu792=
ENST00000584322.1:c.359A>G
NM_032043.2:c.2376A>G , LRG_300t1:c.2376A>G	NP_114432.2:p.Leu792=
XM_011525332.1:c.2436A>G	XP_011523634.1:p.Leu812=
XM_011525333.1:c.2436A>G	XP_011523635.1:p.Leu812=
XM_011525334.1:c.2436A>G	XP_011523636.1:p.Leu812=
XM_011525335.1:c.2376A>G	XP_011523637.1:p.Leu792=
XM_011525336.1:c.2316A>G	XP_011523638.1:p.Leu772=
XM_011525337.1:c.2235A>G	XP_011523639.1:p.Leu745=
XM_011525338.1:c.1953A>G	XP_011523640.1:p.Leu651=
XM_011525339.1:c.2436A>G	XP_011523641.1:p.Leu812=
XM_011525340.1:c.2436A>G	XP_011523642.1:p.Leu812=
XR_934894.1:n.524-1165T>C
XM_011525332.3:c.2436A>G	XP_011523634.1:p.Leu812=
XM_011525333.3:c.2436A>G	XP_011523635.1:p.Leu812=
XM_011525334.2:c.2436A>G	XP_011523636.1:p.Leu812=
XM_011525335.3:c.2376A>G	XP_011523637.1:p.Leu792=
XM_011525336.2:c.2316A>G	XP_011523638.1:p.Leu772=
XM_011525337.2:c.2235A>G	XP_011523639.1:p.Leu745=
XM_011525338.2:c.1953A>G	XP_011523640.1:p.Leu651=
XM_011525339.3:c.2436A>G	XP_011523641.1:p.Leu812=
XM_011525340.3:c.2436A>G	XP_011523642.1:p.Leu812=
XM_017025200.1:c.1893A>G	XP_016880689.1:p.Leu631=
XM_017025201.1:c.1893A>G	XP_016880690.1:p.Leu631=
XM_017025202.1:c.522A>G	XP_016880691.1:p.Leu174=
XM_017025203.1:c.522A>G	XP_016880692.1:p.Leu174=
NM_032043.3:c.2376A>G MANE Select	NP_114432.2:p.Leu792=