Canonical Allele Identifier: CA400478329

Gene: BRIP1

Linked Data

• dbSNP Id: rs1555572535
• gnomAD v4: 17-61683502-C-A
• MyVariant Identifiers: chr17:g.59760863C>A (hg19) ; chr17:g.61683502C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683502C>A , CM000679.2:g.61683502C>A	GRCh38
NC_000017.10:g.59760863C>A , CM000679.1:g.59760863C>A	GRCh37
NC_000017.9:g.57115645C>A	NCBI36
NG_007409.2:g.185058G>T , LRG_300:g.185058G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2284G>T
ENST00000682453.1:c.3544G>T	ENSP00000506943.1:p.Ala1182Ser
ENST00000682477.1:c.*2970G>T	ENSP00000507075.1:n.*2970G>T
ENST00000682589.1:n.9421G>T
ENST00000682755.1:c.3322G>T	ENSP00000507660.1:p.Ala1108Ser
ENST00000682989.1:c.*635G>T	ENSP00000507786.1:n.*635G>T
ENST00000683039.1:c.3544G>T	ENSP00000508303.1:p.Ala1182Ser
ENST00000683235.1:c.*959G>T	ENSP00000507646.1:n.*959G>T
ENST00000683535.1:n.1674G>T
ENST00000684584.1:c.2707G>T	ENSP00000508044.1:p.Ala903Ser
ENST00000684626.1:n.1790G>T
ENST00000684769.1:c.1734G>T	ENSP00000507691.1:n.1734G>T
ENST00000259008.7:c.3544G>T MANE Select	ENSP00000259008.2:p.Ala1182Ser
ENST00000259008.6:c.3544G>T	ENSP00000259008.2:p.Ala1182Ser
NM_032043.2:c.3544G>T , LRG_300t1:c.3544G>T	NP_114432.2:p.Ala1182Ser
XM_011525332.1:c.3604G>T	XP_011523634.1:p.Ala1202Ser
XM_011525333.1:c.3604G>T	XP_011523635.1:p.Ala1202Ser
XM_011525334.1:c.3604G>T	XP_011523636.1:p.Ala1202Ser
XM_011525335.1:c.3544G>T	XP_011523637.1:p.Ala1182Ser
XM_011525336.1:c.3484G>T	XP_011523638.1:p.Ala1162Ser
XM_011525337.1:c.3403G>T	XP_011523639.1:p.Ala1135Ser
XM_011525338.1:c.3121G>T	XP_011523640.1:p.Ala1041Ser
XM_011525332.3:c.3604G>T	XP_011523634.1:p.Ala1202Ser
XM_011525333.3:c.3604G>T	XP_011523635.1:p.Ala1202Ser
XM_011525334.2:c.3604G>T	XP_011523636.1:p.Ala1202Ser
XM_011525335.3:c.3544G>T	XP_011523637.1:p.Ala1182Ser
XM_011525336.2:c.3484G>T	XP_011523638.1:p.Ala1162Ser
XM_011525337.2:c.3403G>T	XP_011523639.1:p.Ala1135Ser
XM_011525338.2:c.3121G>T	XP_011523640.1:p.Ala1041Ser
XM_017025200.1:c.3061G>T	XP_016880689.1:p.Ala1021Ser
XM_017025201.1:c.3061G>T	XP_016880690.1:p.Ala1021Ser
XM_017025202.1:c.1690G>T	XP_016880691.1:p.Ala564Ser
XM_017025203.1:c.1690G>T	XP_016880692.1:p.Ala564Ser
NM_032043.3:c.3544G>T MANE Select	NP_114432.2:p.Ala1182Ser