Canonical Allele Identifier: CA400478338

Gene: BRIP1

Linked Data

• dbSNP Id: rs1443889417
• gnomAD v2: 17-59760865-G-C
• gnomAD v4: 17-61683504-G-C
• MyVariant Identifiers: chr17:g.59760865G>C (hg19) ; chr17:g.61683504G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2282C>G
ENST00000682453.1:c.3542C>G	ENSP00000506943.1:p.Ser1181Ter
ENST00000682477.1:c.*2968C>G	ENSP00000507075.1:n.*2968C>G
ENST00000682589.1:n.9419C>G
ENST00000682755.1:c.3320C>G	ENSP00000507660.1:p.Ser1107Ter
ENST00000682989.1:c.*633C>G	ENSP00000507786.1:n.*633C>G
ENST00000683039.1:c.3542C>G	ENSP00000508303.1:p.Ser1181Ter
ENST00000683235.1:c.*957C>G	ENSP00000507646.1:n.*957C>G
ENST00000683535.1:n.1672C>G
ENST00000684584.1:c.2705C>G	ENSP00000508044.1:p.Ser902Ter
ENST00000684626.1:n.1788C>G
ENST00000684769.1:c.1732C>G	ENSP00000507691.1:n.1732C>G
ENST00000259008.7:c.3542C>G MANE Select	ENSP00000259008.2:p.Ser1181Ter
ENST00000259008.6:c.3542C>G	ENSP00000259008.2:p.Ser1181Ter
NM_032043.2:c.3542C>G , LRG_300t1:c.3542C>G	NP_114432.2:p.Ser1181Ter
XM_011525332.1:c.3602C>G	XP_011523634.1:p.Ser1201Ter
XM_011525333.1:c.3602C>G	XP_011523635.1:p.Ser1201Ter
XM_011525334.1:c.3602C>G	XP_011523636.1:p.Ser1201Ter
XM_011525335.1:c.3542C>G	XP_011523637.1:p.Ser1181Ter
XM_011525336.1:c.3482C>G	XP_011523638.1:p.Ser1161Ter
XM_011525337.1:c.3401C>G	XP_011523639.1:p.Ser1134Ter
XM_011525338.1:c.3119C>G	XP_011523640.1:p.Ser1040Ter
XM_011525332.3:c.3602C>G	XP_011523634.1:p.Ser1201Ter
XM_011525333.3:c.3602C>G	XP_011523635.1:p.Ser1201Ter
XM_011525334.2:c.3602C>G	XP_011523636.1:p.Ser1201Ter
XM_011525335.3:c.3542C>G	XP_011523637.1:p.Ser1181Ter
XM_011525336.2:c.3482C>G	XP_011523638.1:p.Ser1161Ter
XM_011525337.2:c.3401C>G	XP_011523639.1:p.Ser1134Ter
XM_011525338.2:c.3119C>G	XP_011523640.1:p.Ser1040Ter
XM_017025200.1:c.3059C>G	XP_016880689.1:p.Ser1020Ter
XM_017025201.1:c.3059C>G	XP_016880690.1:p.Ser1020Ter
XM_017025202.1:c.1688C>G	XP_016880691.1:p.Ser563Ter
XM_017025203.1:c.1688C>G	XP_016880692.1:p.Ser563Ter
NM_032043.3:c.3542C>G MANE Select	NP_114432.2:p.Ser1181Ter