Canonical Allele Identifier: CA16615474

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 407843
• ClinVar RCV Id: RCV000475399 ; RCV002323710
• dbSNP Id: rs968860042
• gnomAD v2: 17-59761073-C-T
• MyVariant Identifiers: chr17:g.59761073C>T (hg19) ; chr17:g.61683712C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683712C>T , CM000679.2:g.61683712C>T	GRCh38
NC_000017.10:g.59761073C>T , CM000679.1:g.59761073C>T	GRCh37
NC_000017.9:g.57115855C>T	NCBI36
NG_007409.2:g.184848G>A , LRG_300:g.184848G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2074G>A
ENST00000682453.1:c.3334G>A	ENSP00000506943.1:p.Asp1112Asn
ENST00000682477.1:c.*2760G>A	ENSP00000507075.1:n.*2760G>A
ENST00000682589.1:n.9211G>A
ENST00000682755.1:c.3112G>A	ENSP00000507660.1:p.Asp1038Asn
ENST00000682989.1:c.*425G>A	ENSP00000507786.1:n.*425G>A
ENST00000683039.1:c.3334G>A	ENSP00000508303.1:p.Asp1112Asn
ENST00000683235.1:c.*749G>A	ENSP00000507646.1:n.*749G>A
ENST00000683535.1:n.1464G>A
ENST00000684584.1:c.2497G>A	ENSP00000508044.1:p.Asp833Asn
ENST00000684626.1:n.1580G>A
ENST00000684769.1:c.1524G>A	ENSP00000507691.1:n.1524G>A
ENST00000259008.7:c.3334G>A MANE Select	ENSP00000259008.2:p.Asp1112Asn
ENST00000259008.6:c.3334G>A	ENSP00000259008.2:p.Asp1112Asn
NM_032043.2:c.3334G>A , LRG_300t1:c.3334G>A	NP_114432.2:p.Asp1112Asn
XM_011525332.1:c.3394G>A	XP_011523634.1:p.Asp1132Asn
XM_011525333.1:c.3394G>A	XP_011523635.1:p.Asp1132Asn
XM_011525334.1:c.3394G>A	XP_011523636.1:p.Asp1132Asn
XM_011525335.1:c.3334G>A	XP_011523637.1:p.Asp1112Asn
XM_011525336.1:c.3274G>A	XP_011523638.1:p.Asp1092Asn
XM_011525337.1:c.3193G>A	XP_011523639.1:p.Asp1065Asn
XM_011525338.1:c.2911G>A	XP_011523640.1:p.Asp971Asn
XM_011525332.3:c.3394G>A	XP_011523634.1:p.Asp1132Asn
XM_011525333.3:c.3394G>A	XP_011523635.1:p.Asp1132Asn
XM_011525334.2:c.3394G>A	XP_011523636.1:p.Asp1132Asn
XM_011525335.3:c.3334G>A	XP_011523637.1:p.Asp1112Asn
XM_011525336.2:c.3274G>A	XP_011523638.1:p.Asp1092Asn
XM_011525337.2:c.3193G>A	XP_011523639.1:p.Asp1065Asn
XM_011525338.2:c.2911G>A	XP_011523640.1:p.Asp971Asn
XM_017025200.1:c.2851G>A	XP_016880689.1:p.Asp951Asn
XM_017025201.1:c.2851G>A	XP_016880690.1:p.Asp951Asn
XM_017025202.1:c.1480G>A	XP_016880691.1:p.Asp494Asn
XM_017025203.1:c.1480G>A	XP_016880692.1:p.Asp494Asn
NM_032043.3:c.3334G>A MANE Select	NP_114432.2:p.Asp1112Asn