Canonical Allele Identifier: CA400478637

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 485455
• ClinVar RCV Id: RCV000565890 ; RCV000657705 ; RCV000690470 ; RCV003335517 ; RCV001526941 ; RCV001783077
• dbSNP Id: rs786202760
• MyVariant Identifiers: chr17:g.59853918C>T (hg19) ; chr17:g.61776557C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61776557C>T , CM000679.2:g.61776557C>T	GRCh38
NC_000017.10:g.59853918C>T , CM000679.1:g.59853918C>T	GRCh37
NC_000017.9:g.57208700C>T	NCBI36
NG_007409.2:g.92003G>A , LRG_300:g.92003G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.1523G>A	ENSP00000463827.2:n.1523G>A
ENST00000584322.2:c.1941G>A	ENSP00000463272.2:p.Trp647Ter
ENST00000682066.1:c.1434G>A	ENSP00000507191.1:p.Trp478Ter
ENST00000682073.1:n.681G>A
ENST00000682433.1:n.1020G>A
ENST00000682453.1:c.1941G>A	ENSP00000506943.1:p.Trp647Ter
ENST00000682477.1:c.*1367G>A	ENSP00000507075.1:n.*1367G>A
ENST00000682589.1:n.7818G>A
ENST00000682611.1:c.1600G>A	ENSP00000508326.1:n.1600G>A
ENST00000682755.1:c.1719G>A	ENSP00000507660.1:p.Trp573Ter
ENST00000682989.1:c.1941G>A	ENSP00000507786.1:p.Trp647Ter
ENST00000683039.1:c.1941G>A	ENSP00000508303.1:p.Trp647Ter
ENST00000683235.1:c.1941G>A	ENSP00000507646.1:p.Trp647Ter
ENST00000683381.1:c.2001G>A	ENSP00000508184.1:p.Trp667Ter
ENST00000683535.1:n.71G>A
ENST00000684471.1:n.409-55G>A
ENST00000684584.1:c.1434G>A	ENSP00000508044.1:p.Trp478Ter
ENST00000684769.1:c.6G>A	ENSP00000507691.1:p.Trp2Ter
ENST00000259008.7:c.1941G>A MANE Select	ENSP00000259008.2:p.Trp647Ter
ENST00000259008.6:c.1941G>A	ENSP00000259008.2:p.Trp647Ter
ENST00000577598.5:c.1941G>A	ENSP00000464654.1:p.Trp647Ter
ENST00000579028.1:c.634G>A
ENST00000583837.5:n.23G>A
NM_032043.2:c.1941G>A , LRG_300t1:c.1941G>A	NP_114432.2:p.Trp647Ter
XM_011525332.1:c.2001G>A	XP_011523634.1:p.Trp667Ter
XM_011525333.1:c.2001G>A	XP_011523635.1:p.Trp667Ter
XM_011525334.1:c.2001G>A	XP_011523636.1:p.Trp667Ter
XM_011525335.1:c.1996-55G>A	XP_011523637.1:n.1996-55G>A
XM_011525336.1:c.1936-55G>A	XP_011523638.1:n.1936-55G>A
XM_011525337.1:c.1800G>A	XP_011523639.1:p.Trp600Ter
XM_011525338.1:c.1518G>A	XP_011523640.1:p.Trp506Ter
XM_011525339.1:c.2001G>A	XP_011523641.1:p.Trp667Ter
XM_011525340.1:c.2001G>A	XP_011523642.1:p.Trp667Ter
XM_011525332.3:c.2001G>A	XP_011523634.1:p.Trp667Ter
XM_011525333.3:c.2001G>A	XP_011523635.1:p.Trp667Ter
XM_011525334.2:c.2001G>A	XP_011523636.1:p.Trp667Ter
XM_011525335.3:c.1996-55G>A	XP_011523637.1:n.1996-55G>A
XM_011525336.2:c.1936-55G>A	XP_011523638.1:n.1936-55G>A
XM_011525337.2:c.1800G>A	XP_011523639.1:p.Trp600Ter
XM_011525338.2:c.1518G>A	XP_011523640.1:p.Trp506Ter
XM_011525339.3:c.2001G>A	XP_011523641.1:p.Trp667Ter
XM_011525340.3:c.2001G>A	XP_011523642.1:p.Trp667Ter
XM_017025200.1:c.1458G>A	XP_016880689.1:p.Trp486Ter
XM_017025201.1:c.1458G>A	XP_016880690.1:p.Trp486Ter
XM_017025202.1:c.87G>A	XP_016880691.1:p.Trp29Ter
XM_017025203.1:c.87G>A	XP_016880692.1:p.Trp29Ter
NM_032043.3:c.1941G>A MANE Select	NP_114432.2:p.Trp647Ter