Canonical Allele Identifier: CA194780

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 186424
• ClinVar RCV Id: RCV000166016 ; RCV000690601 ; RCV002267914 ; RCV003474871
• dbSNP Id: rs786202941
• MyVariant Identifiers: chr17:g.59853761C>G (hg19) ; chr17:g.61776400C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61776400C>G , CM000679.2:g.61776400C>G	GRCh38
NC_000017.10:g.59853761C>G , CM000679.1:g.59853761C>G	GRCh37
NC_000017.9:g.57208543C>G	NCBI36
NG_007409.2:g.92160G>C , LRG_300:g.92160G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.1679+1G>C	ENSP00000463827.2:n.1679+1G>C
ENST00000584322.2:c.2097+1G>C	ENSP00000463272.2:n.2097+1G>C
ENST00000682066.1:c.1590+1G>C	ENSP00000507191.1:n.1590+1G>C
ENST00000682073.1:n.837+1G>C
ENST00000682433.1:n.1176+1G>C
ENST00000682453.1:c.2097+1G>C	ENSP00000506943.1:n.2097+1G>C
ENST00000682477.1:c.*1523+1G>C	ENSP00000507075.1:n.*1523+1G>C
ENST00000682589.1:n.7974+1G>C
ENST00000682755.1:c.1875+1G>C	ENSP00000507660.1:n.1875+1G>C
ENST00000682989.1:c.2097+1G>C	ENSP00000507786.1:n.2097+1G>C
ENST00000683039.1:c.2097+1G>C	ENSP00000508303.1:n.2097+1G>C
ENST00000683235.1:c.2097+1G>C	ENSP00000507646.1:n.2097+1G>C
ENST00000683381.1:c.2157+1G>C	ENSP00000508184.1:n.2157+1G>C
ENST00000683535.1:n.227+1G>C
ENST00000684471.1:n.510+1G>C
ENST00000684584.1:c.1590+1G>C	ENSP00000508044.1:n.1590+1G>C
ENST00000684769.1:c.162+1G>C	ENSP00000507691.1:n.162+1G>C
ENST00000259008.7:c.2097+1G>C MANE Select	ENSP00000259008.2:n.2097+1G>C
ENST00000259008.6:c.2097+1G>C	ENSP00000259008.2:n.2097+1G>C
ENST00000577598.5:c.2097+1G>C	ENSP00000464654.1:n.2097+1G>C
ENST00000583837.5:n.179+1G>C
ENST00000584322.1:c.80+1G>C
NM_032043.2:c.2097+1G>C , LRG_300t1:c.2097+1G>C	NP_114432.2:n.2097+1G>C
XM_011525332.1:c.2157+1G>C	XP_011523634.1:n.2157+1G>C
XM_011525333.1:c.2157+1G>C	XP_011523635.1:n.2157+1G>C
XM_011525334.1:c.2157+1G>C	XP_011523636.1:n.2157+1G>C
XM_011525335.1:c.2097+1G>C	XP_011523637.1:n.2097+1G>C
XM_011525336.1:c.2037+1G>C	XP_011523638.1:n.2037+1G>C
XM_011525337.1:c.1956+1G>C	XP_011523639.1:n.1956+1G>C
XM_011525338.1:c.1674+1G>C	XP_011523640.1:n.1674+1G>C
XM_011525339.1:c.2157+1G>C	XP_011523641.1:n.2157+1G>C
XM_011525340.1:c.2157+1G>C	XP_011523642.1:n.2157+1G>C
XM_011525332.3:c.2157+1G>C	XP_011523634.1:n.2157+1G>C
XM_011525333.3:c.2157+1G>C	XP_011523635.1:n.2157+1G>C
XM_011525334.2:c.2157+1G>C	XP_011523636.1:n.2157+1G>C
XM_011525335.3:c.2097+1G>C	XP_011523637.1:n.2097+1G>C
XM_011525336.2:c.2037+1G>C	XP_011523638.1:n.2037+1G>C
XM_011525337.2:c.1956+1G>C	XP_011523639.1:n.1956+1G>C
XM_011525338.2:c.1674+1G>C	XP_011523640.1:n.1674+1G>C
XM_011525339.3:c.2157+1G>C	XP_011523641.1:n.2157+1G>C
XM_011525340.3:c.2157+1G>C	XP_011523642.1:n.2157+1G>C
XM_017025200.1:c.1614+1G>C	XP_016880689.1:n.1614+1G>C
XM_017025201.1:c.1614+1G>C	XP_016880690.1:n.1614+1G>C
XM_017025202.1:c.243+1G>C	XP_016880691.1:n.243+1G>C
XM_017025203.1:c.243+1G>C	XP_016880692.1:n.243+1G>C
NM_032043.3:c.2097+1G>C MANE Select	NP_114432.2:n.2097+1G>C