Canonical Allele Identifier: CA400479041

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1039268
• ClinVar RCV Id: RCV001342709 ; RCV004036004
• dbSNP Id: rs1361161166
• gnomAD v4: 17-61683753-G-T
• MyVariant Identifiers: chr17:g.59761114G>T (hg19) ; chr17:g.61683753G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683753G>T , CM000679.2:g.61683753G>T	GRCh38
NC_000017.10:g.59761114G>T , CM000679.1:g.59761114G>T	GRCh37
NC_000017.9:g.57115896G>T	NCBI36
NG_007409.2:g.184807C>A , LRG_300:g.184807C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2033C>A
ENST00000682453.1:c.3293C>A	ENSP00000506943.1:p.Ala1098Asp
ENST00000682477.1:c.*2719C>A	ENSP00000507075.1:n.*2719C>A
ENST00000682589.1:n.9170C>A
ENST00000682755.1:c.3071C>A	ENSP00000507660.1:p.Ala1024Asp
ENST00000682989.1:c.*384C>A	ENSP00000507786.1:n.*384C>A
ENST00000683039.1:c.3293C>A	ENSP00000508303.1:p.Ala1098Asp
ENST00000683235.1:c.*708C>A	ENSP00000507646.1:n.*708C>A
ENST00000683535.1:n.1423C>A
ENST00000684584.1:c.2456C>A	ENSP00000508044.1:p.Ala819Asp
ENST00000684626.1:n.1539C>A
ENST00000684769.1:c.1483C>A	ENSP00000507691.1:n.1483C>A
ENST00000259008.7:c.3293C>A MANE Select	ENSP00000259008.2:p.Ala1098Asp
ENST00000259008.6:c.3293C>A	ENSP00000259008.2:p.Ala1098Asp
NM_032043.2:c.3293C>A , LRG_300t1:c.3293C>A	NP_114432.2:p.Ala1098Asp
XM_011525332.1:c.3353C>A	XP_011523634.1:p.Ala1118Asp
XM_011525333.1:c.3353C>A	XP_011523635.1:p.Ala1118Asp
XM_011525334.1:c.3353C>A	XP_011523636.1:p.Ala1118Asp
XM_011525335.1:c.3293C>A	XP_011523637.1:p.Ala1098Asp
XM_011525336.1:c.3233C>A	XP_011523638.1:p.Ala1078Asp
XM_011525337.1:c.3152C>A	XP_011523639.1:p.Ala1051Asp
XM_011525338.1:c.2870C>A	XP_011523640.1:p.Ala957Asp
XM_011525332.3:c.3353C>A	XP_011523634.1:p.Ala1118Asp
XM_011525333.3:c.3353C>A	XP_011523635.1:p.Ala1118Asp
XM_011525334.2:c.3353C>A	XP_011523636.1:p.Ala1118Asp
XM_011525335.3:c.3293C>A	XP_011523637.1:p.Ala1098Asp
XM_011525336.2:c.3233C>A	XP_011523638.1:p.Ala1078Asp
XM_011525337.2:c.3152C>A	XP_011523639.1:p.Ala1051Asp
XM_011525338.2:c.2870C>A	XP_011523640.1:p.Ala957Asp
XM_017025200.1:c.2810C>A	XP_016880689.1:p.Ala937Asp
XM_017025201.1:c.2810C>A	XP_016880690.1:p.Ala937Asp
XM_017025202.1:c.1439C>A	XP_016880691.1:p.Ala480Asp
XM_017025203.1:c.1439C>A	XP_016880692.1:p.Ala480Asp
NM_032043.3:c.3293C>A MANE Select	NP_114432.2:p.Ala1098Asp