Canonical Allele Identifier: CA8690377

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 407861
• ClinVar RCV Id: RCV000471184 ; RCV001524710
• dbSNP Id: rs761278503
• ExAC: 17:59761141 G / A
• gnomAD v2: 17-59761141-G-A
• gnomAD v4: 17-61683780-G-A
• MyVariant Identifiers: chr17:g.59761141G>A (hg19) ; chr17:g.61683780G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683780G>A , CM000679.2:g.61683780G>A	GRCh38
NC_000017.10:g.59761141G>A , CM000679.1:g.59761141G>A	GRCh37
NC_000017.9:g.57115923G>A	NCBI36
NG_007409.2:g.184780C>T , LRG_300:g.184780C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2006C>T
ENST00000682453.1:c.3266C>T	ENSP00000506943.1:p.Ser1089Phe
ENST00000682477.1:c.*2692C>T	ENSP00000507075.1:n.*2692C>T
ENST00000682589.1:n.9143C>T
ENST00000682755.1:c.3044C>T	ENSP00000507660.1:p.Ser1015Phe
ENST00000682989.1:c.*357C>T	ENSP00000507786.1:n.*357C>T
ENST00000683039.1:c.3266C>T	ENSP00000508303.1:p.Ser1089Phe
ENST00000683235.1:c.*681C>T	ENSP00000507646.1:n.*681C>T
ENST00000683535.1:n.1396C>T
ENST00000684584.1:c.2429C>T	ENSP00000508044.1:p.Ser810Phe
ENST00000684626.1:n.1512C>T
ENST00000684769.1:c.1456C>T	ENSP00000507691.1:n.1456C>T
ENST00000259008.7:c.3266C>T MANE Select	ENSP00000259008.2:p.Ser1089Phe
ENST00000259008.6:c.3266C>T	ENSP00000259008.2:p.Ser1089Phe
NM_032043.2:c.3266C>T , LRG_300t1:c.3266C>T	NP_114432.2:p.Ser1089Phe
XM_011525332.1:c.3326C>T	XP_011523634.1:p.Ser1109Phe
XM_011525333.1:c.3326C>T	XP_011523635.1:p.Ser1109Phe
XM_011525334.1:c.3326C>T	XP_011523636.1:p.Ser1109Phe
XM_011525335.1:c.3266C>T	XP_011523637.1:p.Ser1089Phe
XM_011525336.1:c.3206C>T	XP_011523638.1:p.Ser1069Phe
XM_011525337.1:c.3125C>T	XP_011523639.1:p.Ser1042Phe
XM_011525338.1:c.2843C>T	XP_011523640.1:p.Ser948Phe
XM_011525332.3:c.3326C>T	XP_011523634.1:p.Ser1109Phe
XM_011525333.3:c.3326C>T	XP_011523635.1:p.Ser1109Phe
XM_011525334.2:c.3326C>T	XP_011523636.1:p.Ser1109Phe
XM_011525335.3:c.3266C>T	XP_011523637.1:p.Ser1089Phe
XM_011525336.2:c.3206C>T	XP_011523638.1:p.Ser1069Phe
XM_011525337.2:c.3125C>T	XP_011523639.1:p.Ser1042Phe
XM_011525338.2:c.2843C>T	XP_011523640.1:p.Ser948Phe
XM_017025200.1:c.2783C>T	XP_016880689.1:p.Ser928Phe
XM_017025201.1:c.2783C>T	XP_016880690.1:p.Ser928Phe
XM_017025202.1:c.1412C>T	XP_016880691.1:p.Ser471Phe
XM_017025203.1:c.1412C>T	XP_016880692.1:p.Ser471Phe
NM_032043.3:c.3266C>T MANE Select	NP_114432.2:p.Ser1089Phe