Canonical Allele Identifier: CA400478679

Gene: BRIP1

Linked Data

• dbSNP Id: rs4987050
• gnomAD v2: 17-59760948-A-C
• gnomAD v4: 17-61683587-A-C
• MyVariant Identifiers: chr17:g.59760948A>C (hg19) ; chr17:g.61683587A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683587A>C , CM000679.2:g.61683587A>C	GRCh38
NC_000017.10:g.59760948A>C , CM000679.1:g.59760948A>C	GRCh37
NC_000017.9:g.57115730A>C	NCBI36
NG_007409.2:g.184973T>G , LRG_300:g.184973T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2199T>G
ENST00000682453.1:c.3459T>G	ENSP00000506943.1:p.Asp1153Glu
ENST00000682477.1:c.*2885T>G	ENSP00000507075.1:n.*2885T>G
ENST00000682589.1:n.9336T>G
ENST00000682755.1:c.3237T>G	ENSP00000507660.1:p.Asp1079Glu
ENST00000682989.1:c.*550T>G	ENSP00000507786.1:n.*550T>G
ENST00000683039.1:c.3459T>G	ENSP00000508303.1:p.Asp1153Glu
ENST00000683235.1:c.*874T>G	ENSP00000507646.1:n.*874T>G
ENST00000683535.1:n.1589T>G
ENST00000684584.1:c.2622T>G	ENSP00000508044.1:p.Asp874Glu
ENST00000684626.1:n.1705T>G
ENST00000684769.1:c.1649T>G	ENSP00000507691.1:n.1649T>G
ENST00000259008.7:c.3459T>G MANE Select	ENSP00000259008.2:p.Asp1153Glu
ENST00000259008.6:c.3459T>G	ENSP00000259008.2:p.Asp1153Glu
NM_032043.2:c.3459T>G , LRG_300t1:c.3459T>G	NP_114432.2:p.Asp1153Glu
XM_011525332.1:c.3519T>G	XP_011523634.1:p.Asp1173Glu
XM_011525333.1:c.3519T>G	XP_011523635.1:p.Asp1173Glu
XM_011525334.1:c.3519T>G	XP_011523636.1:p.Asp1173Glu
XM_011525335.1:c.3459T>G	XP_011523637.1:p.Asp1153Glu
XM_011525336.1:c.3399T>G	XP_011523638.1:p.Asp1133Glu
XM_011525337.1:c.3318T>G	XP_011523639.1:p.Asp1106Glu
XM_011525338.1:c.3036T>G	XP_011523640.1:p.Asp1012Glu
XM_011525332.3:c.3519T>G	XP_011523634.1:p.Asp1173Glu
XM_011525333.3:c.3519T>G	XP_011523635.1:p.Asp1173Glu
XM_011525334.2:c.3519T>G	XP_011523636.1:p.Asp1173Glu
XM_011525335.3:c.3459T>G	XP_011523637.1:p.Asp1153Glu
XM_011525336.2:c.3399T>G	XP_011523638.1:p.Asp1133Glu
XM_011525337.2:c.3318T>G	XP_011523639.1:p.Asp1106Glu
XM_011525338.2:c.3036T>G	XP_011523640.1:p.Asp1012Glu
XM_017025200.1:c.2976T>G	XP_016880689.1:p.Asp992Glu
XM_017025201.1:c.2976T>G	XP_016880690.1:p.Asp992Glu
XM_017025202.1:c.1605T>G	XP_016880691.1:p.Asp535Glu
XM_017025203.1:c.1605T>G	XP_016880692.1:p.Asp535Glu
NM_032043.3:c.3459T>G MANE Select	NP_114432.2:p.Asp1153Glu