Canonical Allele Identifier: CA501150463

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1792073
• ClinVar RCV Id: RCV002430941 ; RCV003101883
• gnomAD v4: 17-61715953-A-G
• MyVariant Identifiers: chr17:g.59793314A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61715953A>G , CM000679.2:g.61715953A>G	GRCh38
NC_000017.10:g.59793314A>G , CM000679.1:g.59793314A>G	GRCh37
NC_000017.9:g.57148096A>G	NCBI36
NG_007409.2:g.152607T>C , LRG_300:g.152607T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2620T>C	ENSP00000507191.1:n.2620T>C
ENST00000682073.1:n.1230T>C
ENST00000682433.1:n.1569T>C
ENST00000682453.1:c.2490T>C	ENSP00000506943.1:p.Gly830=
ENST00000682477.1:c.*1916T>C	ENSP00000507075.1:n.*1916T>C
ENST00000682589.1:n.8367T>C
ENST00000682755.1:c.2268T>C	ENSP00000507660.1:p.Gly756=
ENST00000682989.1:c.2490T>C	ENSP00000507786.1:p.Gly830=
ENST00000683039.1:c.2490T>C	ENSP00000508303.1:p.Gly830=
ENST00000683235.1:c.2490T>C	ENSP00000507646.1:p.Gly830=
ENST00000683535.1:n.620T>C
ENST00000684471.1:n.903T>C
ENST00000684584.1:c.1983T>C	ENSP00000508044.1:p.Gly661=
ENST00000684626.1:n.819T>C
ENST00000684769.1:c.555T>C	ENSP00000507691.1:p.Gly185=
ENST00000259008.7:c.2490T>C MANE Select	ENSP00000259008.2:p.Gly830=
ENST00000259008.6:c.2490T>C	ENSP00000259008.2:p.Gly830=
ENST00000577598.5:c.2490T>C	ENSP00000464654.1:p.Gly830=
NM_032043.2:c.2490T>C , LRG_300t1:c.2490T>C	NP_114432.2:p.Gly830=
XM_011525332.1:c.2550T>C	XP_011523634.1:p.Gly850=
XM_011525333.1:c.2550T>C	XP_011523635.1:p.Gly850=
XM_011525334.1:c.2550T>C	XP_011523636.1:p.Gly850=
XM_011525335.1:c.2490T>C	XP_011523637.1:p.Gly830=
XM_011525336.1:c.2430T>C	XP_011523638.1:p.Gly810=
XM_011525337.1:c.2349T>C	XP_011523639.1:p.Gly783=
XM_011525338.1:c.2067T>C	XP_011523640.1:p.Gly689=
XM_011525340.1:c.2550T>C	XP_011523642.1:p.Gly850=
XM_011525332.3:c.2550T>C	XP_011523634.1:p.Gly850=
XM_011525333.3:c.2550T>C	XP_011523635.1:p.Gly850=
XM_011525334.2:c.2550T>C	XP_011523636.1:p.Gly850=
XM_011525335.3:c.2490T>C	XP_011523637.1:p.Gly830=
XM_011525336.2:c.2430T>C	XP_011523638.1:p.Gly810=
XM_011525337.2:c.2349T>C	XP_011523639.1:p.Gly783=
XM_011525338.2:c.2067T>C	XP_011523640.1:p.Gly689=
XM_011525340.3:c.2550T>C	XP_011523642.1:p.Gly850=
XM_017025200.1:c.2007T>C	XP_016880689.1:p.Gly669=
XM_017025201.1:c.2007T>C	XP_016880690.1:p.Gly669=
XM_017025202.1:c.636T>C	XP_016880691.1:p.Gly212=
XM_017025203.1:c.636T>C	XP_016880692.1:p.Gly212=
NM_032043.3:c.2490T>C MANE Select	NP_114432.2:p.Gly830=