Canonical Allele Identifier: CA400478525

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 479467
• ClinVar RCV Id: RCV000571779 ; RCV001211268 ; RCV003231532
• dbSNP Id: rs1555572570
• gnomAD v3: 17-61683547-C-T
• gnomAD v4: 17-61683547-C-T
• MyVariant Identifiers: chr17:g.59760908C>T (hg19) ; chr17:g.61683547C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683547C>T , CM000679.2:g.61683547C>T	GRCh38
NC_000017.10:g.59760908C>T , CM000679.1:g.59760908C>T	GRCh37
NC_000017.9:g.57115690C>T	NCBI36
NG_007409.2:g.185013G>A , LRG_300:g.185013G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2239G>A
ENST00000682453.1:c.3499G>A	ENSP00000506943.1:p.Ala1167Thr
ENST00000682477.1:c.*2925G>A	ENSP00000507075.1:n.*2925G>A
ENST00000682589.1:n.9376G>A
ENST00000682755.1:c.3277G>A	ENSP00000507660.1:p.Ala1093Thr
ENST00000682989.1:c.*590G>A	ENSP00000507786.1:n.*590G>A
ENST00000683039.1:c.3499G>A	ENSP00000508303.1:p.Ala1167Thr
ENST00000683235.1:c.*914G>A	ENSP00000507646.1:n.*914G>A
ENST00000683535.1:n.1629G>A
ENST00000684584.1:c.2662G>A	ENSP00000508044.1:p.Ala888Thr
ENST00000684626.1:n.1745G>A
ENST00000684769.1:c.1689G>A	ENSP00000507691.1:n.1689G>A
ENST00000259008.7:c.3499G>A MANE Select	ENSP00000259008.2:p.Ala1167Thr
ENST00000259008.6:c.3499G>A	ENSP00000259008.2:p.Ala1167Thr
NM_032043.2:c.3499G>A , LRG_300t1:c.3499G>A	NP_114432.2:p.Ala1167Thr
XM_011525332.1:c.3559G>A	XP_011523634.1:p.Ala1187Thr
XM_011525333.1:c.3559G>A	XP_011523635.1:p.Ala1187Thr
XM_011525334.1:c.3559G>A	XP_011523636.1:p.Ala1187Thr
XM_011525335.1:c.3499G>A	XP_011523637.1:p.Ala1167Thr
XM_011525336.1:c.3439G>A	XP_011523638.1:p.Ala1147Thr
XM_011525337.1:c.3358G>A	XP_011523639.1:p.Ala1120Thr
XM_011525338.1:c.3076G>A	XP_011523640.1:p.Ala1026Thr
XM_011525332.3:c.3559G>A	XP_011523634.1:p.Ala1187Thr
XM_011525333.3:c.3559G>A	XP_011523635.1:p.Ala1187Thr
XM_011525334.2:c.3559G>A	XP_011523636.1:p.Ala1187Thr
XM_011525335.3:c.3499G>A	XP_011523637.1:p.Ala1167Thr
XM_011525336.2:c.3439G>A	XP_011523638.1:p.Ala1147Thr
XM_011525337.2:c.3358G>A	XP_011523639.1:p.Ala1120Thr
XM_011525338.2:c.3076G>A	XP_011523640.1:p.Ala1026Thr
XM_017025200.1:c.3016G>A	XP_016880689.1:p.Ala1006Thr
XM_017025201.1:c.3016G>A	XP_016880690.1:p.Ala1006Thr
XM_017025202.1:c.1645G>A	XP_016880691.1:p.Ala549Thr
XM_017025203.1:c.1645G>A	XP_016880692.1:p.Ala549Thr
NM_032043.3:c.3499G>A MANE Select	NP_114432.2:p.Ala1167Thr