Canonical Allele Identifier: CA400478336

Gene: BRIP1

Linked Data

• dbSNP Id: rs1443889417
• MyVariant Identifiers: chr17:g.59760865G>A (hg19) ; chr17:g.61683504G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683504G>A , CM000679.2:g.61683504G>A	GRCh38
NC_000017.10:g.59760865G>A , CM000679.1:g.59760865G>A	GRCh37
NC_000017.9:g.57115647G>A	NCBI36
NG_007409.2:g.185056C>T , LRG_300:g.185056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2282C>T
ENST00000682453.1:c.3542C>T	ENSP00000506943.1:p.Ser1181Leu
ENST00000682477.1:c.*2968C>T	ENSP00000507075.1:n.*2968C>T
ENST00000682589.1:n.9419C>T
ENST00000682755.1:c.3320C>T	ENSP00000507660.1:p.Ser1107Leu
ENST00000682989.1:c.*633C>T	ENSP00000507786.1:n.*633C>T
ENST00000683039.1:c.3542C>T	ENSP00000508303.1:p.Ser1181Leu
ENST00000683235.1:c.*957C>T	ENSP00000507646.1:n.*957C>T
ENST00000683535.1:n.1672C>T
ENST00000684584.1:c.2705C>T	ENSP00000508044.1:p.Ser902Leu
ENST00000684626.1:n.1788C>T
ENST00000684769.1:c.1732C>T	ENSP00000507691.1:n.1732C>T
ENST00000259008.7:c.3542C>T MANE Select	ENSP00000259008.2:p.Ser1181Leu
ENST00000259008.6:c.3542C>T	ENSP00000259008.2:p.Ser1181Leu
NM_032043.2:c.3542C>T , LRG_300t1:c.3542C>T	NP_114432.2:p.Ser1181Leu
XM_011525332.1:c.3602C>T	XP_011523634.1:p.Ser1201Leu
XM_011525333.1:c.3602C>T	XP_011523635.1:p.Ser1201Leu
XM_011525334.1:c.3602C>T	XP_011523636.1:p.Ser1201Leu
XM_011525335.1:c.3542C>T	XP_011523637.1:p.Ser1181Leu
XM_011525336.1:c.3482C>T	XP_011523638.1:p.Ser1161Leu
XM_011525337.1:c.3401C>T	XP_011523639.1:p.Ser1134Leu
XM_011525338.1:c.3119C>T	XP_011523640.1:p.Ser1040Leu
XM_011525332.3:c.3602C>T	XP_011523634.1:p.Ser1201Leu
XM_011525333.3:c.3602C>T	XP_011523635.1:p.Ser1201Leu
XM_011525334.2:c.3602C>T	XP_011523636.1:p.Ser1201Leu
XM_011525335.3:c.3542C>T	XP_011523637.1:p.Ser1181Leu
XM_011525336.2:c.3482C>T	XP_011523638.1:p.Ser1161Leu
XM_011525337.2:c.3401C>T	XP_011523639.1:p.Ser1134Leu
XM_011525338.2:c.3119C>T	XP_011523640.1:p.Ser1040Leu
XM_017025200.1:c.3059C>T	XP_016880689.1:p.Ser1020Leu
XM_017025201.1:c.3059C>T	XP_016880690.1:p.Ser1020Leu
XM_017025202.1:c.1688C>T	XP_016880691.1:p.Ser563Leu
XM_017025203.1:c.1688C>T	XP_016880692.1:p.Ser563Leu
NM_032043.3:c.3542C>T MANE Select	NP_114432.2:p.Ser1181Leu