Canonical Allele Identifier: CA501151110

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 461103
• ClinVar RCV Id: RCV000546651 ; RCV000574495 ; RCV001551550 ; RCV003316702
• dbSNP Id: rs1555590464
• MyVariant Identifiers: chr17:g.59820446C>T (hg19) ; chr17:g.61743085C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743085C>T , CM000679.2:g.61743085C>T	GRCh38
NC_000017.10:g.59820446C>T , CM000679.1:g.59820446C>T	GRCh37
NC_000017.9:g.57175228C>T	NCBI36
NG_007409.2:g.125475G>A , LRG_300:g.125475G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2307G>A	ENSP00000463272.2:p.Leu769=
ENST00000682066.1:c.2437G>A	ENSP00000507191.1:n.2437G>A
ENST00000682073.1:n.1047G>A
ENST00000682433.1:n.1386G>A
ENST00000682453.1:c.2307G>A	ENSP00000506943.1:p.Leu769=
ENST00000682477.1:c.*1733G>A	ENSP00000507075.1:n.*1733G>A
ENST00000682589.1:n.8184G>A
ENST00000682755.1:c.2085G>A	ENSP00000507660.1:p.Leu695=
ENST00000682989.1:c.2307G>A	ENSP00000507786.1:p.Leu769=
ENST00000683039.1:c.2307G>A	ENSP00000508303.1:p.Leu769=
ENST00000683235.1:c.2307G>A	ENSP00000507646.1:p.Leu769=
ENST00000683381.1:c.2367G>A	ENSP00000508184.1:p.Leu789=
ENST00000683535.1:n.437G>A
ENST00000684471.1:n.720G>A
ENST00000684584.1:c.1800G>A	ENSP00000508044.1:p.Leu600=
ENST00000684769.1:c.372G>A	ENSP00000507691.1:p.Leu124=
ENST00000259008.7:c.2307G>A MANE Select	ENSP00000259008.2:p.Leu769=
ENST00000259008.6:c.2307G>A	ENSP00000259008.2:p.Leu769=
ENST00000577598.5:c.2307G>A	ENSP00000464654.1:p.Leu769=
ENST00000584322.1:c.290G>A
NM_032043.2:c.2307G>A , LRG_300t1:c.2307G>A	NP_114432.2:p.Leu769=
XM_011525332.1:c.2367G>A	XP_011523634.1:p.Leu789=
XM_011525333.1:c.2367G>A	XP_011523635.1:p.Leu789=
XM_011525334.1:c.2367G>A	XP_011523636.1:p.Leu789=
XM_011525335.1:c.2307G>A	XP_011523637.1:p.Leu769=
XM_011525336.1:c.2247G>A	XP_011523638.1:p.Leu749=
XM_011525337.1:c.2166G>A	XP_011523639.1:p.Leu722=
XM_011525338.1:c.1884G>A	XP_011523640.1:p.Leu628=
XM_011525339.1:c.2367G>A	XP_011523641.1:p.Leu789=
XM_011525340.1:c.2367G>A	XP_011523642.1:p.Leu789=
XR_934894.1:n.524-1096C>T
XM_011525332.3:c.2367G>A	XP_011523634.1:p.Leu789=
XM_011525333.3:c.2367G>A	XP_011523635.1:p.Leu789=
XM_011525334.2:c.2367G>A	XP_011523636.1:p.Leu789=
XM_011525335.3:c.2307G>A	XP_011523637.1:p.Leu769=
XM_011525336.2:c.2247G>A	XP_011523638.1:p.Leu749=
XM_011525337.2:c.2166G>A	XP_011523639.1:p.Leu722=
XM_011525338.2:c.1884G>A	XP_011523640.1:p.Leu628=
XM_011525339.3:c.2367G>A	XP_011523641.1:p.Leu789=
XM_011525340.3:c.2367G>A	XP_011523642.1:p.Leu789=
XM_017025200.1:c.1824G>A	XP_016880689.1:p.Leu608=
XM_017025201.1:c.1824G>A	XP_016880690.1:p.Leu608=
XM_017025202.1:c.453G>A	XP_016880691.1:p.Leu151=
XM_017025203.1:c.453G>A	XP_016880692.1:p.Leu151=
NM_032043.3:c.2307G>A MANE Select	NP_114432.2:p.Leu769=