Canonical Allele Identifier: CA8690390

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 485454
• ClinVar RCV Id: RCV000575730 ; RCV001858368
• dbSNP Id: rs770517912
• ExAC: 17:59761222 G / A
• gnomAD v4: 17-61683861-G-A
• MyVariant Identifiers: chr17:g.59761222G>A (hg19) ; chr17:g.61683861G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683861G>A , CM000679.2:g.61683861G>A	GRCh38
NC_000017.10:g.59761222G>A , CM000679.1:g.59761222G>A	GRCh37
NC_000017.9:g.57116004G>A	NCBI36
NG_007409.2:g.184699C>T , LRG_300:g.184699C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1925C>T
ENST00000682453.1:c.3185C>T	ENSP00000506943.1:p.Thr1062Ile
ENST00000682477.1:c.*2611C>T	ENSP00000507075.1:n.*2611C>T
ENST00000682589.1:n.9062C>T
ENST00000682755.1:c.2963C>T	ENSP00000507660.1:p.Thr988Ile
ENST00000682989.1:c.*276C>T	ENSP00000507786.1:n.*276C>T
ENST00000683039.1:c.3185C>T	ENSP00000508303.1:p.Thr1062Ile
ENST00000683235.1:c.*600C>T	ENSP00000507646.1:n.*600C>T
ENST00000683535.1:n.1315C>T
ENST00000684584.1:c.2348C>T	ENSP00000508044.1:p.Thr783Ile
ENST00000684626.1:n.1431C>T
ENST00000684769.1:c.1375C>T	ENSP00000507691.1:n.1375C>T
ENST00000259008.7:c.3185C>T MANE Select	ENSP00000259008.2:p.Thr1062Ile
ENST00000259008.6:c.3185C>T	ENSP00000259008.2:p.Thr1062Ile
NM_032043.2:c.3185C>T , LRG_300t1:c.3185C>T	NP_114432.2:p.Thr1062Ile
XM_011525332.1:c.3245C>T	XP_011523634.1:p.Thr1082Ile
XM_011525333.1:c.3245C>T	XP_011523635.1:p.Thr1082Ile
XM_011525334.1:c.3245C>T	XP_011523636.1:p.Thr1082Ile
XM_011525335.1:c.3185C>T	XP_011523637.1:p.Thr1062Ile
XM_011525336.1:c.3125C>T	XP_011523638.1:p.Thr1042Ile
XM_011525337.1:c.3044C>T	XP_011523639.1:p.Thr1015Ile
XM_011525338.1:c.2762C>T	XP_011523640.1:p.Thr921Ile
XM_011525332.3:c.3245C>T	XP_011523634.1:p.Thr1082Ile
XM_011525333.3:c.3245C>T	XP_011523635.1:p.Thr1082Ile
XM_011525334.2:c.3245C>T	XP_011523636.1:p.Thr1082Ile
XM_011525335.3:c.3185C>T	XP_011523637.1:p.Thr1062Ile
XM_011525336.2:c.3125C>T	XP_011523638.1:p.Thr1042Ile
XM_011525337.2:c.3044C>T	XP_011523639.1:p.Thr1015Ile
XM_011525338.2:c.2762C>T	XP_011523640.1:p.Thr921Ile
XM_017025200.1:c.2702C>T	XP_016880689.1:p.Thr901Ile
XM_017025201.1:c.2702C>T	XP_016880690.1:p.Thr901Ile
XM_017025202.1:c.1331C>T	XP_016880691.1:p.Thr444Ile
XM_017025203.1:c.1331C>T	XP_016880692.1:p.Thr444Ile
NM_032043.3:c.3185C>T MANE Select	NP_114432.2:p.Thr1062Ile