Canonical Allele Identifier: CA400478780

Gene: BRIP1

Linked Data

• dbSNP Id: rs1186451404
• gnomAD v2: 17-59760992-G-T
• gnomAD v3: 17-61683631-G-T
• gnomAD v4: 17-61683631-G-T
• MyVariant Identifiers: chr17:g.59760992G>T (hg19) ; chr17:g.61683631G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683631G>T , CM000679.2:g.61683631G>T	GRCh38
NC_000017.10:g.59760992G>T , CM000679.1:g.59760992G>T	GRCh37
NC_000017.9:g.57115774G>T	NCBI36
NG_007409.2:g.184929C>A , LRG_300:g.184929C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2155C>A
ENST00000682453.1:c.3415C>A	ENSP00000506943.1:p.Pro1139Thr
ENST00000682477.1:c.*2841C>A	ENSP00000507075.1:n.*2841C>A
ENST00000682589.1:n.9292C>A
ENST00000682755.1:c.3193C>A	ENSP00000507660.1:p.Pro1065Thr
ENST00000682989.1:c.*506C>A	ENSP00000507786.1:n.*506C>A
ENST00000683039.1:c.3415C>A	ENSP00000508303.1:p.Pro1139Thr
ENST00000683235.1:c.*830C>A	ENSP00000507646.1:n.*830C>A
ENST00000683535.1:n.1545C>A
ENST00000684584.1:c.2578C>A	ENSP00000508044.1:p.Pro860Thr
ENST00000684626.1:n.1661C>A
ENST00000684769.1:c.1605C>A	ENSP00000507691.1:n.1605C>A
ENST00000259008.7:c.3415C>A MANE Select	ENSP00000259008.2:p.Pro1139Thr
ENST00000259008.6:c.3415C>A	ENSP00000259008.2:p.Pro1139Thr
NM_032043.2:c.3415C>A , LRG_300t1:c.3415C>A	NP_114432.2:p.Pro1139Thr
XM_011525332.1:c.3475C>A	XP_011523634.1:p.Pro1159Thr
XM_011525333.1:c.3475C>A	XP_011523635.1:p.Pro1159Thr
XM_011525334.1:c.3475C>A	XP_011523636.1:p.Pro1159Thr
XM_011525335.1:c.3415C>A	XP_011523637.1:p.Pro1139Thr
XM_011525336.1:c.3355C>A	XP_011523638.1:p.Pro1119Thr
XM_011525337.1:c.3274C>A	XP_011523639.1:p.Pro1092Thr
XM_011525338.1:c.2992C>A	XP_011523640.1:p.Pro998Thr
XM_011525332.3:c.3475C>A	XP_011523634.1:p.Pro1159Thr
XM_011525333.3:c.3475C>A	XP_011523635.1:p.Pro1159Thr
XM_011525334.2:c.3475C>A	XP_011523636.1:p.Pro1159Thr
XM_011525335.3:c.3415C>A	XP_011523637.1:p.Pro1139Thr
XM_011525336.2:c.3355C>A	XP_011523638.1:p.Pro1119Thr
XM_011525337.2:c.3274C>A	XP_011523639.1:p.Pro1092Thr
XM_011525338.2:c.2992C>A	XP_011523640.1:p.Pro998Thr
XM_017025200.1:c.2932C>A	XP_016880689.1:p.Pro978Thr
XM_017025201.1:c.2932C>A	XP_016880690.1:p.Pro978Thr
XM_017025202.1:c.1561C>A	XP_016880691.1:p.Pro521Thr
XM_017025203.1:c.1561C>A	XP_016880692.1:p.Pro521Thr
NM_032043.3:c.3415C>A MANE Select	NP_114432.2:p.Pro1139Thr