Canonical Allele Identifier: CA400478446

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 954168
• ClinVar RCV Id: RCV001226578
• dbSNP Id: rs2061303840
• MyVariant Identifiers: chr17:g.59760890T>G (hg19) ; chr17:g.61683529T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683529T>G , CM000679.2:g.61683529T>G	GRCh38
NC_000017.10:g.59760890T>G , CM000679.1:g.59760890T>G	GRCh37
NC_000017.9:g.57115672T>G	NCBI36
NG_007409.2:g.185031A>C , LRG_300:g.185031A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2257A>C
ENST00000682453.1:c.3517A>C	ENSP00000506943.1:p.Ile1173Leu
ENST00000682477.1:c.*2943A>C	ENSP00000507075.1:n.*2943A>C
ENST00000682589.1:n.9394A>C
ENST00000682755.1:c.3295A>C	ENSP00000507660.1:p.Ile1099Leu
ENST00000682989.1:c.*608A>C	ENSP00000507786.1:n.*608A>C
ENST00000683039.1:c.3517A>C	ENSP00000508303.1:p.Ile1173Leu
ENST00000683235.1:c.*932A>C	ENSP00000507646.1:n.*932A>C
ENST00000683535.1:n.1647A>C
ENST00000684584.1:c.2680A>C	ENSP00000508044.1:p.Ile894Leu
ENST00000684626.1:n.1763A>C
ENST00000684769.1:c.1707A>C	ENSP00000507691.1:n.1707A>C
ENST00000259008.7:c.3517A>C MANE Select	ENSP00000259008.2:p.Ile1173Leu
ENST00000259008.6:c.3517A>C	ENSP00000259008.2:p.Ile1173Leu
NM_032043.2:c.3517A>C , LRG_300t1:c.3517A>C	NP_114432.2:p.Ile1173Leu
XM_011525332.1:c.3577A>C	XP_011523634.1:p.Ile1193Leu
XM_011525333.1:c.3577A>C	XP_011523635.1:p.Ile1193Leu
XM_011525334.1:c.3577A>C	XP_011523636.1:p.Ile1193Leu
XM_011525335.1:c.3517A>C	XP_011523637.1:p.Ile1173Leu
XM_011525336.1:c.3457A>C	XP_011523638.1:p.Ile1153Leu
XM_011525337.1:c.3376A>C	XP_011523639.1:p.Ile1126Leu
XM_011525338.1:c.3094A>C	XP_011523640.1:p.Ile1032Leu
XM_011525332.3:c.3577A>C	XP_011523634.1:p.Ile1193Leu
XM_011525333.3:c.3577A>C	XP_011523635.1:p.Ile1193Leu
XM_011525334.2:c.3577A>C	XP_011523636.1:p.Ile1193Leu
XM_011525335.3:c.3517A>C	XP_011523637.1:p.Ile1173Leu
XM_011525336.2:c.3457A>C	XP_011523638.1:p.Ile1153Leu
XM_011525337.2:c.3376A>C	XP_011523639.1:p.Ile1126Leu
XM_011525338.2:c.3094A>C	XP_011523640.1:p.Ile1032Leu
XM_017025200.1:c.3034A>C	XP_016880689.1:p.Ile1012Leu
XM_017025201.1:c.3034A>C	XP_016880690.1:p.Ile1012Leu
XM_017025202.1:c.1663A>C	XP_016880691.1:p.Ile555Leu
XM_017025203.1:c.1663A>C	XP_016880692.1:p.Ile555Leu
NM_032043.3:c.3517A>C MANE Select	NP_114432.2:p.Ile1173Leu