Canonical Allele Identifier: CA501151751

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1798806
• ClinVar RCV Id: RCV002435777
• dbSNP Id: rs2145331967
• MyVariant Identifiers: chr17:g.59878629T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61801268T>G , CM000679.2:g.61801268T>G	GRCh38
NC_000017.10:g.59878629T>G , CM000679.1:g.59878629T>G	GRCh37
NC_000017.9:g.57233411T>G	NCBI36
NG_007409.2:g.67292A>C , LRG_300:g.67292A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000579028.2:c.618A>C	ENSP00000463827.2:p.Ala206=
ENST00000584322.2:c.1125A>C	ENSP00000463272.2:p.Ala375=
ENST00000682066.1:c.618A>C	ENSP00000507191.1:p.Ala206=
ENST00000682453.1:c.1125A>C	ENSP00000506943.1:p.Ala375=
ENST00000682477.1:c.1125A>C	ENSP00000507075.1:p.Ala375=
ENST00000682589.1:n.2866A>C
ENST00000682611.1:c.618A>C	ENSP00000508326.1:p.Ala206=
ENST00000682755.1:c.919-1969A>C	ENSP00000507660.1:n.919-1969A>C
ENST00000682989.1:c.1125A>C	ENSP00000507786.1:p.Ala375=
ENST00000683039.1:c.1125A>C	ENSP00000508303.1:p.Ala375=
ENST00000683235.1:c.1125A>C	ENSP00000507646.1:p.Ala375=
ENST00000683381.1:c.1125A>C	ENSP00000508184.1:p.Ala375=
ENST00000683692.1:c.703A>C	ENSP00000507964.1:n.703A>C
ENST00000684584.1:c.618A>C	ENSP00000508044.1:p.Ala206=
ENST00000259008.7:c.1125A>C MANE Select	ENSP00000259008.2:p.Ala375=
ENST00000259008.6:c.1125A>C	ENSP00000259008.2:p.Ala375=
ENST00000577598.5:c.1125A>C	ENSP00000464654.1:p.Ala375=
NM_032043.2:c.1125A>C , LRG_300t1:c.1125A>C	NP_114432.2:p.Ala375=
XM_011525332.1:c.1125A>C	XP_011523634.1:p.Ala375=
XM_011525333.1:c.1125A>C	XP_011523635.1:p.Ala375=
XM_011525334.1:c.1125A>C	XP_011523636.1:p.Ala375=
XM_011525335.1:c.1125A>C	XP_011523637.1:p.Ala375=
XM_011525336.1:c.1125A>C	XP_011523638.1:p.Ala375=
XM_011525337.1:c.1125A>C	XP_011523639.1:p.Ala375=
XM_011525338.1:c.642A>C	XP_011523640.1:p.Ala214=
XM_011525339.1:c.1125A>C	XP_011523641.1:p.Ala375=
XM_011525340.1:c.1125A>C	XP_011523642.1:p.Ala375=
XM_011525341.1:c.1125A>C	XP_011523643.1:p.Ala375=
XM_011525332.3:c.1125A>C	XP_011523634.1:p.Ala375=
XM_011525333.3:c.1125A>C	XP_011523635.1:p.Ala375=
XM_011525334.2:c.1125A>C	XP_011523636.1:p.Ala375=
XM_011525335.3:c.1125A>C	XP_011523637.1:p.Ala375=
XM_011525336.2:c.1125A>C	XP_011523638.1:p.Ala375=
XM_011525337.2:c.1125A>C	XP_011523639.1:p.Ala375=
XM_011525338.2:c.642A>C	XP_011523640.1:p.Ala214=
XM_011525339.3:c.1125A>C	XP_011523641.1:p.Ala375=
XM_011525340.3:c.1125A>C	XP_011523642.1:p.Ala375=
XM_011525341.3:c.1125A>C	XP_011523643.1:p.Ala375=
XM_017025200.1:c.642A>C	XP_016880689.1:p.Ala214=
XM_017025201.1:c.582A>C	XP_016880690.1:p.Ala194=
NM_032043.3:c.1125A>C MANE Select	NP_114432.2:p.Ala375=