Canonical Allele Identifier: CA298841

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 182335
• ClinVar RCV Id: RCV001057053
• dbSNP Id: rs730881626
• gnomAD v4: 17-61685890-T-C
• MyVariant Identifiers: chr17:g.59763251T>C (hg19) ; chr17:g.61685890T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685890T>C , CM000679.2:g.61685890T>C	GRCh38
NC_000017.10:g.59763251T>C , CM000679.1:g.59763251T>C	GRCh37
NC_000017.9:g.57118033T>C	NCBI36
NG_007409.2:g.182670A>G , LRG_300:g.182670A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2981A>G	ENSP00000507191.1:n.2981A>G
ENST00000682073.1:n.1591A>G
ENST00000682433.1:n.1930A>G
ENST00000682453.1:c.2851A>G	ENSP00000506943.1:p.Ile951Val
ENST00000682477.1:c.*2277A>G	ENSP00000507075.1:n.*2277A>G
ENST00000682589.1:n.8728A>G
ENST00000682755.1:c.2629A>G	ENSP00000507660.1:p.Ile877Val
ENST00000682989.1:c.2610-1750A>G	ENSP00000507786.1:n.2610-1750A>G
ENST00000683039.1:c.2851A>G	ENSP00000508303.1:p.Ile951Val
ENST00000683235.1:c.*266A>G	ENSP00000507646.1:n.*266A>G
ENST00000683535.1:n.981A>G
ENST00000684471.1:n.1264A>G
ENST00000684584.1:c.2069-1750A>G	ENSP00000508044.1:n.2069-1750A>G
ENST00000684626.1:n.1097A>G
ENST00000684769.1:c.1041A>G	ENSP00000507691.1:n.1041A>G
ENST00000259008.7:c.2851A>G MANE Select	ENSP00000259008.2:p.Ile951Val
ENST00000259008.6:c.2851A>G	ENSP00000259008.2:p.Ile951Val
ENST00000577598.5:c.2851A>G	ENSP00000464654.1:p.Ile951Val
NM_032043.2:c.2851A>G , LRG_300t1:c.2851A>G	NP_114432.2:p.Ile951Val
XM_011525332.1:c.2911A>G	XP_011523634.1:p.Ile971Val
XM_011525333.1:c.2911A>G	XP_011523635.1:p.Ile971Val
XM_011525334.1:c.2911A>G	XP_011523636.1:p.Ile971Val
XM_011525335.1:c.2851A>G	XP_011523637.1:p.Ile951Val
XM_011525336.1:c.2791A>G	XP_011523638.1:p.Ile931Val
XM_011525337.1:c.2710A>G	XP_011523639.1:p.Ile904Val
XM_011525338.1:c.2428A>G	XP_011523640.1:p.Ile810Val
XM_011525332.3:c.2911A>G	XP_011523634.1:p.Ile971Val
XM_011525333.3:c.2911A>G	XP_011523635.1:p.Ile971Val
XM_011525334.2:c.2911A>G	XP_011523636.1:p.Ile971Val
XM_011525335.3:c.2851A>G	XP_011523637.1:p.Ile951Val
XM_011525336.2:c.2791A>G	XP_011523638.1:p.Ile931Val
XM_011525337.2:c.2710A>G	XP_011523639.1:p.Ile904Val
XM_011525338.2:c.2428A>G	XP_011523640.1:p.Ile810Val
XM_017025200.1:c.2368A>G	XP_016880689.1:p.Ile790Val
XM_017025201.1:c.2368A>G	XP_016880690.1:p.Ile790Val
XM_017025202.1:c.997A>G	XP_016880691.1:p.Ile333Val
XM_017025203.1:c.997A>G	XP_016880692.1:p.Ile333Val
NM_032043.3:c.2851A>G MANE Select	NP_114432.2:p.Ile951Val