Canonical Allele Identifier: CA400477978

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 824006
• ClinVar RCV Id: RCV001020751 ; RCV001860998 ; RCV004545017
• dbSNP Id: rs1603274780
• gnomAD v4: 17-61683421-T-C
• MyVariant Identifiers: chr17:g.59760782T>C (hg19) ; chr17:g.61683421T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683421T>C , CM000679.2:g.61683421T>C	GRCh38
NC_000017.10:g.59760782T>C , CM000679.1:g.59760782T>C	GRCh37
NC_000017.9:g.57115564T>C	NCBI36
NG_007409.2:g.185139A>G , LRG_300:g.185139A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2365A>G
ENST00000682453.1:c.3625A>G	ENSP00000506943.1:p.Ile1209Val
ENST00000682477.1:c.*3051A>G	ENSP00000507075.1:n.*3051A>G
ENST00000682589.1:n.9502A>G
ENST00000682755.1:c.3403A>G	ENSP00000507660.1:p.Ile1135Val
ENST00000682989.1:c.*716A>G	ENSP00000507786.1:n.*716A>G
ENST00000683039.1:c.3625A>G	ENSP00000508303.1:p.Ile1209Val
ENST00000683235.1:c.*1040A>G	ENSP00000507646.1:n.*1040A>G
ENST00000683535.1:n.1755A>G
ENST00000684584.1:c.2788A>G	ENSP00000508044.1:p.Ile930Val
ENST00000684626.1:n.1871A>G
ENST00000684769.1:c.1815A>G	ENSP00000507691.1:n.1815A>G
ENST00000259008.7:c.3625A>G MANE Select	ENSP00000259008.2:p.Ile1209Val
ENST00000259008.6:c.3625A>G	ENSP00000259008.2:p.Ile1209Val
NM_032043.2:c.3625A>G , LRG_300t1:c.3625A>G	NP_114432.2:p.Ile1209Val
XM_011525332.1:c.3685A>G	XP_011523634.1:p.Ile1229Val
XM_011525333.1:c.3685A>G	XP_011523635.1:p.Ile1229Val
XM_011525334.1:c.3685A>G	XP_011523636.1:p.Ile1229Val
XM_011525335.1:c.3625A>G	XP_011523637.1:p.Ile1209Val
XM_011525336.1:c.3565A>G	XP_011523638.1:p.Ile1189Val
XM_011525337.1:c.3484A>G	XP_011523639.1:p.Ile1162Val
XM_011525338.1:c.3202A>G	XP_011523640.1:p.Ile1068Val
XM_011525332.3:c.3685A>G	XP_011523634.1:p.Ile1229Val
XM_011525333.3:c.3685A>G	XP_011523635.1:p.Ile1229Val
XM_011525334.2:c.3685A>G	XP_011523636.1:p.Ile1229Val
XM_011525335.3:c.3625A>G	XP_011523637.1:p.Ile1209Val
XM_011525336.2:c.3565A>G	XP_011523638.1:p.Ile1189Val
XM_011525337.2:c.3484A>G	XP_011523639.1:p.Ile1162Val
XM_011525338.2:c.3202A>G	XP_011523640.1:p.Ile1068Val
XM_017025200.1:c.3142A>G	XP_016880689.1:p.Ile1048Val
XM_017025201.1:c.3142A>G	XP_016880690.1:p.Ile1048Val
XM_017025202.1:c.1771A>G	XP_016880691.1:p.Ile591Val
XM_017025203.1:c.1771A>G	XP_016880692.1:p.Ile591Val
NM_032043.3:c.3625A>G MANE Select	NP_114432.2:p.Ile1209Val