Canonical Allele Identifier: CA400479634

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 461138
• ClinVar RCV Id: RCV000537705 ; RCV002323944
• dbSNP Id: rs1555572825
• gnomAD v4: 17-61683918-C-T
• MyVariant Identifiers: chr17:g.59761279C>T (hg19) ; chr17:g.61683918C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683918C>T , CM000679.2:g.61683918C>T	GRCh38
NC_000017.10:g.59761279C>T , CM000679.1:g.59761279C>T	GRCh37
NC_000017.9:g.57116061C>T	NCBI36
NG_007409.2:g.184642G>A , LRG_300:g.184642G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1868G>A
ENST00000682453.1:c.3128G>A	ENSP00000506943.1:p.Ser1043Asn
ENST00000682477.1:c.*2554G>A	ENSP00000507075.1:n.*2554G>A
ENST00000682589.1:n.9005G>A
ENST00000682755.1:c.2906G>A	ENSP00000507660.1:p.Ser969Asn
ENST00000682989.1:c.*219G>A	ENSP00000507786.1:n.*219G>A
ENST00000683039.1:c.3128G>A	ENSP00000508303.1:p.Ser1043Asn
ENST00000683235.1:c.*543G>A	ENSP00000507646.1:n.*543G>A
ENST00000683535.1:n.1258G>A
ENST00000684584.1:c.2291G>A	ENSP00000508044.1:p.Ser764Asn
ENST00000684626.1:n.1374G>A
ENST00000684769.1:c.1318G>A	ENSP00000507691.1:n.1318G>A
ENST00000259008.7:c.3128G>A MANE Select	ENSP00000259008.2:p.Ser1043Asn
ENST00000259008.6:c.3128G>A	ENSP00000259008.2:p.Ser1043Asn
NM_032043.2:c.3128G>A , LRG_300t1:c.3128G>A	NP_114432.2:p.Ser1043Asn
XM_011525332.1:c.3188G>A	XP_011523634.1:p.Ser1063Asn
XM_011525333.1:c.3188G>A	XP_011523635.1:p.Ser1063Asn
XM_011525334.1:c.3188G>A	XP_011523636.1:p.Ser1063Asn
XM_011525335.1:c.3128G>A	XP_011523637.1:p.Ser1043Asn
XM_011525336.1:c.3068G>A	XP_011523638.1:p.Ser1023Asn
XM_011525337.1:c.2987G>A	XP_011523639.1:p.Ser996Asn
XM_011525338.1:c.2705G>A	XP_011523640.1:p.Ser902Asn
XM_011525332.3:c.3188G>A	XP_011523634.1:p.Ser1063Asn
XM_011525333.3:c.3188G>A	XP_011523635.1:p.Ser1063Asn
XM_011525334.2:c.3188G>A	XP_011523636.1:p.Ser1063Asn
XM_011525335.3:c.3128G>A	XP_011523637.1:p.Ser1043Asn
XM_011525336.2:c.3068G>A	XP_011523638.1:p.Ser1023Asn
XM_011525337.2:c.2987G>A	XP_011523639.1:p.Ser996Asn
XM_011525338.2:c.2705G>A	XP_011523640.1:p.Ser902Asn
XM_017025200.1:c.2645G>A	XP_016880689.1:p.Ser882Asn
XM_017025201.1:c.2645G>A	XP_016880690.1:p.Ser882Asn
XM_017025202.1:c.1274G>A	XP_016880691.1:p.Ser425Asn
XM_017025203.1:c.1274G>A	XP_016880692.1:p.Ser425Asn
NM_032043.3:c.3128G>A MANE Select	NP_114432.2:p.Ser1043Asn