Canonical Allele Identifier: CA400479394

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2774984
• ClinVar RCV Id: RCV003585042
• MyVariant Identifiers: chr17:g.59761222G>T (hg19) ; chr17:g.61683861G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1925C>A
ENST00000682453.1:c.3185C>A	ENSP00000506943.1:p.Thr1062Lys
ENST00000682477.1:c.*2611C>A	ENSP00000507075.1:n.*2611C>A
ENST00000682589.1:n.9062C>A
ENST00000682755.1:c.2963C>A	ENSP00000507660.1:p.Thr988Lys
ENST00000682989.1:c.*276C>A	ENSP00000507786.1:n.*276C>A
ENST00000683039.1:c.3185C>A	ENSP00000508303.1:p.Thr1062Lys
ENST00000683235.1:c.*600C>A	ENSP00000507646.1:n.*600C>A
ENST00000683535.1:n.1315C>A
ENST00000684584.1:c.2348C>A	ENSP00000508044.1:p.Thr783Lys
ENST00000684626.1:n.1431C>A
ENST00000684769.1:c.1375C>A	ENSP00000507691.1:n.1375C>A
ENST00000259008.7:c.3185C>A MANE Select	ENSP00000259008.2:p.Thr1062Lys
ENST00000259008.6:c.3185C>A	ENSP00000259008.2:p.Thr1062Lys
NM_032043.2:c.3185C>A , LRG_300t1:c.3185C>A	NP_114432.2:p.Thr1062Lys
XM_011525332.1:c.3245C>A	XP_011523634.1:p.Thr1082Lys
XM_011525333.1:c.3245C>A	XP_011523635.1:p.Thr1082Lys
XM_011525334.1:c.3245C>A	XP_011523636.1:p.Thr1082Lys
XM_011525335.1:c.3185C>A	XP_011523637.1:p.Thr1062Lys
XM_011525336.1:c.3125C>A	XP_011523638.1:p.Thr1042Lys
XM_011525337.1:c.3044C>A	XP_011523639.1:p.Thr1015Lys
XM_011525338.1:c.2762C>A	XP_011523640.1:p.Thr921Lys
XM_011525332.3:c.3245C>A	XP_011523634.1:p.Thr1082Lys
XM_011525333.3:c.3245C>A	XP_011523635.1:p.Thr1082Lys
XM_011525334.2:c.3245C>A	XP_011523636.1:p.Thr1082Lys
XM_011525335.3:c.3185C>A	XP_011523637.1:p.Thr1062Lys
XM_011525336.2:c.3125C>A	XP_011523638.1:p.Thr1042Lys
XM_011525337.2:c.3044C>A	XP_011523639.1:p.Thr1015Lys
XM_011525338.2:c.2762C>A	XP_011523640.1:p.Thr921Lys
XM_017025200.1:c.2702C>A	XP_016880689.1:p.Thr901Lys
XM_017025201.1:c.2702C>A	XP_016880690.1:p.Thr901Lys
XM_017025202.1:c.1331C>A	XP_016880691.1:p.Thr444Lys
XM_017025203.1:c.1331C>A	XP_016880692.1:p.Thr444Lys
NM_032043.3:c.3185C>A MANE Select	NP_114432.2:p.Thr1062Lys