Canonical Allele Identifier: CA400477996

Gene: BRIP1

Linked Data

• dbSNP Id: rs139539831
• MyVariant Identifiers: chr17:g.59760787T>C (hg19) ; chr17:g.61683426T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683426T>C , CM000679.2:g.61683426T>C	GRCh38
NC_000017.10:g.59760787T>C , CM000679.1:g.59760787T>C	GRCh37
NC_000017.9:g.57115569T>C	NCBI36
NG_007409.2:g.185134A>G , LRG_300:g.185134A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2360A>G
ENST00000682453.1:c.3620A>G	ENSP00000506943.1:p.Asp1207Gly
ENST00000682477.1:c.*3046A>G	ENSP00000507075.1:n.*3046A>G
ENST00000682589.1:n.9497A>G
ENST00000682755.1:c.3398A>G	ENSP00000507660.1:p.Asp1133Gly
ENST00000682989.1:c.*711A>G	ENSP00000507786.1:n.*711A>G
ENST00000683039.1:c.3620A>G	ENSP00000508303.1:p.Asp1207Gly
ENST00000683235.1:c.*1035A>G	ENSP00000507646.1:n.*1035A>G
ENST00000683535.1:n.1750A>G
ENST00000684584.1:c.2783A>G	ENSP00000508044.1:p.Asp928Gly
ENST00000684626.1:n.1866A>G
ENST00000684769.1:c.1810A>G	ENSP00000507691.1:n.1810A>G
ENST00000259008.7:c.3620A>G MANE Select	ENSP00000259008.2:p.Asp1207Gly
ENST00000259008.6:c.3620A>G	ENSP00000259008.2:p.Asp1207Gly
NM_032043.2:c.3620A>G , LRG_300t1:c.3620A>G	NP_114432.2:p.Asp1207Gly
XM_011525332.1:c.3680A>G	XP_011523634.1:p.Asp1227Gly
XM_011525333.1:c.3680A>G	XP_011523635.1:p.Asp1227Gly
XM_011525334.1:c.3680A>G	XP_011523636.1:p.Asp1227Gly
XM_011525335.1:c.3620A>G	XP_011523637.1:p.Asp1207Gly
XM_011525336.1:c.3560A>G	XP_011523638.1:p.Asp1187Gly
XM_011525337.1:c.3479A>G	XP_011523639.1:p.Asp1160Gly
XM_011525338.1:c.3197A>G	XP_011523640.1:p.Asp1066Gly
XM_011525332.3:c.3680A>G	XP_011523634.1:p.Asp1227Gly
XM_011525333.3:c.3680A>G	XP_011523635.1:p.Asp1227Gly
XM_011525334.2:c.3680A>G	XP_011523636.1:p.Asp1227Gly
XM_011525335.3:c.3620A>G	XP_011523637.1:p.Asp1207Gly
XM_011525336.2:c.3560A>G	XP_011523638.1:p.Asp1187Gly
XM_011525337.2:c.3479A>G	XP_011523639.1:p.Asp1160Gly
XM_011525338.2:c.3197A>G	XP_011523640.1:p.Asp1066Gly
XM_017025200.1:c.3137A>G	XP_016880689.1:p.Asp1046Gly
XM_017025201.1:c.3137A>G	XP_016880690.1:p.Asp1046Gly
XM_017025202.1:c.1766A>G	XP_016880691.1:p.Asp589Gly
XM_017025203.1:c.1766A>G	XP_016880692.1:p.Asp589Gly
NM_032043.3:c.3620A>G MANE Select	NP_114432.2:p.Asp1207Gly