Canonical Allele Identifier: CA400479444

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 952143
• ClinVar RCV Id: RCV001224194
• dbSNP Id: rs2061317781
• MyVariant Identifiers: chr17:g.59761235G>C (hg19) ; chr17:g.61683874G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683874G>C , CM000679.2:g.61683874G>C	GRCh38
NC_000017.10:g.59761235G>C , CM000679.1:g.59761235G>C	GRCh37
NC_000017.9:g.57116017G>C	NCBI36
NG_007409.2:g.184686C>G , LRG_300:g.184686C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1912C>G
ENST00000682453.1:c.3172C>G	ENSP00000506943.1:p.Leu1058Val
ENST00000682477.1:c.*2598C>G	ENSP00000507075.1:n.*2598C>G
ENST00000682589.1:n.9049C>G
ENST00000682755.1:c.2950C>G	ENSP00000507660.1:p.Leu984Val
ENST00000682989.1:c.*263C>G	ENSP00000507786.1:n.*263C>G
ENST00000683039.1:c.3172C>G	ENSP00000508303.1:p.Leu1058Val
ENST00000683235.1:c.*587C>G	ENSP00000507646.1:n.*587C>G
ENST00000683535.1:n.1302C>G
ENST00000684584.1:c.2335C>G	ENSP00000508044.1:p.Leu779Val
ENST00000684626.1:n.1418C>G
ENST00000684769.1:c.1362C>G	ENSP00000507691.1:n.1362C>G
ENST00000259008.7:c.3172C>G MANE Select	ENSP00000259008.2:p.Leu1058Val
ENST00000259008.6:c.3172C>G	ENSP00000259008.2:p.Leu1058Val
NM_032043.2:c.3172C>G , LRG_300t1:c.3172C>G	NP_114432.2:p.Leu1058Val
XM_011525332.1:c.3232C>G	XP_011523634.1:p.Leu1078Val
XM_011525333.1:c.3232C>G	XP_011523635.1:p.Leu1078Val
XM_011525334.1:c.3232C>G	XP_011523636.1:p.Leu1078Val
XM_011525335.1:c.3172C>G	XP_011523637.1:p.Leu1058Val
XM_011525336.1:c.3112C>G	XP_011523638.1:p.Leu1038Val
XM_011525337.1:c.3031C>G	XP_011523639.1:p.Leu1011Val
XM_011525338.1:c.2749C>G	XP_011523640.1:p.Leu917Val
XM_011525332.3:c.3232C>G	XP_011523634.1:p.Leu1078Val
XM_011525333.3:c.3232C>G	XP_011523635.1:p.Leu1078Val
XM_011525334.2:c.3232C>G	XP_011523636.1:p.Leu1078Val
XM_011525335.3:c.3172C>G	XP_011523637.1:p.Leu1058Val
XM_011525336.2:c.3112C>G	XP_011523638.1:p.Leu1038Val
XM_011525337.2:c.3031C>G	XP_011523639.1:p.Leu1011Val
XM_011525338.2:c.2749C>G	XP_011523640.1:p.Leu917Val
XM_017025200.1:c.2689C>G	XP_016880689.1:p.Leu897Val
XM_017025201.1:c.2689C>G	XP_016880690.1:p.Leu897Val
XM_017025202.1:c.1318C>G	XP_016880691.1:p.Leu440Val
XM_017025203.1:c.1318C>G	XP_016880692.1:p.Leu440Val
NM_032043.3:c.3172C>G MANE Select	NP_114432.2:p.Leu1058Val