Canonical Allele Identifier: CA400482454

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 530297
• ClinVar RCV Id: RCV000636075 ; RCV003162845 ; RCV003336100
• dbSNP Id: rs1555574803
• MyVariant Identifiers: chr17:g.59770849C>T (hg19) ; chr17:g.61693488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61693488C>T , CM000679.2:g.61693488C>T	GRCh38
NC_000017.10:g.59770849C>T , CM000679.1:g.59770849C>T	GRCh37
NC_000017.9:g.57125631C>T	NCBI36
NG_007409.2:g.175072G>A , LRG_300:g.175072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2647G>A	ENSP00000507191.1:n.2647G>A
ENST00000682073.1:n.1257G>A
ENST00000682433.1:n.1596G>A
ENST00000682453.1:c.2517G>A	ENSP00000506943.1:p.Trp839Ter
ENST00000682477.1:c.*1943G>A	ENSP00000507075.1:n.*1943G>A
ENST00000682589.1:n.8394G>A
ENST00000682755.1:c.2295G>A	ENSP00000507660.1:p.Trp765Ter
ENST00000682989.1:c.2493-5016G>A	ENSP00000507786.1:n.2493-5016G>A
ENST00000683039.1:c.2517G>A	ENSP00000508303.1:p.Trp839Ter
ENST00000683235.1:c.2493-7323G>A	ENSP00000507646.1:n.2493-7323G>A
ENST00000683535.1:n.647G>A
ENST00000684471.1:n.930G>A
ENST00000684584.1:c.2010G>A	ENSP00000508044.1:p.Trp670Ter
ENST00000684626.1:n.822-7323G>A
ENST00000684769.1:c.582G>A	ENSP00000507691.1:p.Trp194Ter
ENST00000259008.7:c.2517G>A MANE Select	ENSP00000259008.2:p.Trp839Ter
ENST00000259008.6:c.2517G>A	ENSP00000259008.2:p.Trp839Ter
ENST00000577598.5:c.2517G>A	ENSP00000464654.1:p.Trp839Ter
NM_032043.2:c.2517G>A , LRG_300t1:c.2517G>A	NP_114432.2:p.Trp839Ter
XM_011525332.1:c.2577G>A	XP_011523634.1:p.Trp859Ter
XM_011525333.1:c.2577G>A	XP_011523635.1:p.Trp859Ter
XM_011525334.1:c.2577G>A	XP_011523636.1:p.Trp859Ter
XM_011525335.1:c.2517G>A	XP_011523637.1:p.Trp839Ter
XM_011525336.1:c.2457G>A	XP_011523638.1:p.Trp819Ter
XM_011525337.1:c.2376G>A	XP_011523639.1:p.Trp792Ter
XM_011525338.1:c.2094G>A	XP_011523640.1:p.Trp698Ter
XM_011525340.1:c.2553-7323G>A	XP_011523642.1:n.2553-7323G>A
XM_011525332.3:c.2577G>A	XP_011523634.1:p.Trp859Ter
XM_011525333.3:c.2577G>A	XP_011523635.1:p.Trp859Ter
XM_011525334.2:c.2577G>A	XP_011523636.1:p.Trp859Ter
XM_011525335.3:c.2517G>A	XP_011523637.1:p.Trp839Ter
XM_011525336.2:c.2457G>A	XP_011523638.1:p.Trp819Ter
XM_011525337.2:c.2376G>A	XP_011523639.1:p.Trp792Ter
XM_011525338.2:c.2094G>A	XP_011523640.1:p.Trp698Ter
XM_011525340.3:c.2553-7323G>A	XP_011523642.1:n.2553-7323G>A
XM_017025200.1:c.2034G>A	XP_016880689.1:p.Trp678Ter
XM_017025201.1:c.2034G>A	XP_016880690.1:p.Trp678Ter
XM_017025202.1:c.663G>A	XP_016880691.1:p.Trp221Ter
XM_017025203.1:c.663G>A	XP_016880692.1:p.Trp221Ter
NM_032043.3:c.2517G>A MANE Select	NP_114432.2:p.Trp839Ter