Canonical Allele Identifier: CA400478553

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 964733
• ClinVar RCV Id: RCV001239012
• dbSNP Id: rs2061304701
• gnomAD v3: 17-61683554-G-T
• gnomAD v4: 17-61683554-G-T
• MyVariant Identifiers: chr17:g.59760915G>T (hg19) ; chr17:g.61683554G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683554G>T , CM000679.2:g.61683554G>T	GRCh38
NC_000017.10:g.59760915G>T , CM000679.1:g.59760915G>T	GRCh37
NC_000017.9:g.57115697G>T	NCBI36
NG_007409.2:g.185006C>A , LRG_300:g.185006C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2232C>A
ENST00000682453.1:c.3492C>A	ENSP00000506943.1:p.Cys1164Ter
ENST00000682477.1:c.*2918C>A	ENSP00000507075.1:n.*2918C>A
ENST00000682589.1:n.9369C>A
ENST00000682755.1:c.3270C>A	ENSP00000507660.1:p.Cys1090Ter
ENST00000682989.1:c.*583C>A	ENSP00000507786.1:n.*583C>A
ENST00000683039.1:c.3492C>A	ENSP00000508303.1:p.Cys1164Ter
ENST00000683235.1:c.*907C>A	ENSP00000507646.1:n.*907C>A
ENST00000683535.1:n.1622C>A
ENST00000684584.1:c.2655C>A	ENSP00000508044.1:p.Cys885Ter
ENST00000684626.1:n.1738C>A
ENST00000684769.1:c.1682C>A	ENSP00000507691.1:n.1682C>A
ENST00000259008.7:c.3492C>A MANE Select	ENSP00000259008.2:p.Cys1164Ter
ENST00000259008.6:c.3492C>A	ENSP00000259008.2:p.Cys1164Ter
NM_032043.2:c.3492C>A , LRG_300t1:c.3492C>A	NP_114432.2:p.Cys1164Ter
XM_011525332.1:c.3552C>A	XP_011523634.1:p.Cys1184Ter
XM_011525333.1:c.3552C>A	XP_011523635.1:p.Cys1184Ter
XM_011525334.1:c.3552C>A	XP_011523636.1:p.Cys1184Ter
XM_011525335.1:c.3492C>A	XP_011523637.1:p.Cys1164Ter
XM_011525336.1:c.3432C>A	XP_011523638.1:p.Cys1144Ter
XM_011525337.1:c.3351C>A	XP_011523639.1:p.Cys1117Ter
XM_011525338.1:c.3069C>A	XP_011523640.1:p.Cys1023Ter
XM_011525332.3:c.3552C>A	XP_011523634.1:p.Cys1184Ter
XM_011525333.3:c.3552C>A	XP_011523635.1:p.Cys1184Ter
XM_011525334.2:c.3552C>A	XP_011523636.1:p.Cys1184Ter
XM_011525335.3:c.3492C>A	XP_011523637.1:p.Cys1164Ter
XM_011525336.2:c.3432C>A	XP_011523638.1:p.Cys1144Ter
XM_011525337.2:c.3351C>A	XP_011523639.1:p.Cys1117Ter
XM_011525338.2:c.3069C>A	XP_011523640.1:p.Cys1023Ter
XM_017025200.1:c.3009C>A	XP_016880689.1:p.Cys1003Ter
XM_017025201.1:c.3009C>A	XP_016880690.1:p.Cys1003Ter
XM_017025202.1:c.1638C>A	XP_016880691.1:p.Cys546Ter
XM_017025203.1:c.1638C>A	XP_016880692.1:p.Cys546Ter
NM_032043.3:c.3492C>A MANE Select	NP_114432.2:p.Cys1164Ter