Canonical Allele Identifier: CA400478812

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 461150
• ClinVar RCV Id: RCV000560658 ; RCV001020189
• dbSNP Id: rs1555572645
• gnomAD v4: 17-61683648-G-A
• MyVariant Identifiers: chr17:g.59761009G>A (hg19) ; chr17:g.61683648G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683648G>A , CM000679.2:g.61683648G>A	GRCh38
NC_000017.10:g.59761009G>A , CM000679.1:g.59761009G>A	GRCh37
NC_000017.9:g.57115791G>A	NCBI36
NG_007409.2:g.184912C>T , LRG_300:g.184912C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2138C>T
ENST00000682453.1:c.3398C>T	ENSP00000506943.1:p.Thr1133Ile
ENST00000682477.1:c.*2824C>T	ENSP00000507075.1:n.*2824C>T
ENST00000682589.1:n.9275C>T
ENST00000682755.1:c.3176C>T	ENSP00000507660.1:p.Thr1059Ile
ENST00000682989.1:c.*489C>T	ENSP00000507786.1:n.*489C>T
ENST00000683039.1:c.3398C>T	ENSP00000508303.1:p.Thr1133Ile
ENST00000683235.1:c.*813C>T	ENSP00000507646.1:n.*813C>T
ENST00000683535.1:n.1528C>T
ENST00000684584.1:c.2561C>T	ENSP00000508044.1:p.Thr854Ile
ENST00000684626.1:n.1644C>T
ENST00000684769.1:c.1588C>T	ENSP00000507691.1:n.1588C>T
ENST00000259008.7:c.3398C>T MANE Select	ENSP00000259008.2:p.Thr1133Ile
ENST00000259008.6:c.3398C>T	ENSP00000259008.2:p.Thr1133Ile
NM_032043.2:c.3398C>T , LRG_300t1:c.3398C>T	NP_114432.2:p.Thr1133Ile
XM_011525332.1:c.3458C>T	XP_011523634.1:p.Thr1153Ile
XM_011525333.1:c.3458C>T	XP_011523635.1:p.Thr1153Ile
XM_011525334.1:c.3458C>T	XP_011523636.1:p.Thr1153Ile
XM_011525335.1:c.3398C>T	XP_011523637.1:p.Thr1133Ile
XM_011525336.1:c.3338C>T	XP_011523638.1:p.Thr1113Ile
XM_011525337.1:c.3257C>T	XP_011523639.1:p.Thr1086Ile
XM_011525338.1:c.2975C>T	XP_011523640.1:p.Thr992Ile
XM_011525332.3:c.3458C>T	XP_011523634.1:p.Thr1153Ile
XM_011525333.3:c.3458C>T	XP_011523635.1:p.Thr1153Ile
XM_011525334.2:c.3458C>T	XP_011523636.1:p.Thr1153Ile
XM_011525335.3:c.3398C>T	XP_011523637.1:p.Thr1133Ile
XM_011525336.2:c.3338C>T	XP_011523638.1:p.Thr1113Ile
XM_011525337.2:c.3257C>T	XP_011523639.1:p.Thr1086Ile
XM_011525338.2:c.2975C>T	XP_011523640.1:p.Thr992Ile
XM_017025200.1:c.2915C>T	XP_016880689.1:p.Thr972Ile
XM_017025201.1:c.2915C>T	XP_016880690.1:p.Thr972Ile
XM_017025202.1:c.1544C>T	XP_016880691.1:p.Thr515Ile
XM_017025203.1:c.1544C>T	XP_016880692.1:p.Thr515Ile
NM_032043.3:c.3398C>T MANE Select	NP_114432.2:p.Thr1133Ile