Canonical Allele Identifier: CA400481360

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144109302
• MyVariant Identifiers: chr17:g.59763260A>C (hg19) ; chr17:g.61685899A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685899A>C , CM000679.2:g.61685899A>C	GRCh38
NC_000017.10:g.59763260A>C , CM000679.1:g.59763260A>C	GRCh37
NC_000017.9:g.57118042A>C	NCBI36
NG_007409.2:g.182661T>G , LRG_300:g.182661T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2972T>G	ENSP00000507191.1:n.2972T>G
ENST00000682073.1:n.1582T>G
ENST00000682433.1:n.1921T>G
ENST00000682453.1:c.2842T>G	ENSP00000506943.1:p.Cys948Gly
ENST00000682477.1:c.*2268T>G	ENSP00000507075.1:n.*2268T>G
ENST00000682589.1:n.8719T>G
ENST00000682755.1:c.2620T>G	ENSP00000507660.1:p.Cys874Gly
ENST00000682989.1:c.2610-1759T>G	ENSP00000507786.1:n.2610-1759T>G
ENST00000683039.1:c.2842T>G	ENSP00000508303.1:p.Cys948Gly
ENST00000683235.1:c.*257T>G	ENSP00000507646.1:n.*257T>G
ENST00000683535.1:n.972T>G
ENST00000684471.1:n.1255T>G
ENST00000684584.1:c.2069-1759T>G	ENSP00000508044.1:n.2069-1759T>G
ENST00000684626.1:n.1088T>G
ENST00000684769.1:c.1032T>G	ENSP00000507691.1:n.1032T>G
ENST00000259008.7:c.2842T>G MANE Select	ENSP00000259008.2:p.Cys948Gly
ENST00000259008.6:c.2842T>G	ENSP00000259008.2:p.Cys948Gly
ENST00000577598.5:c.2842T>G	ENSP00000464654.1:p.Cys948Gly
NM_032043.2:c.2842T>G , LRG_300t1:c.2842T>G	NP_114432.2:p.Cys948Gly
XM_011525332.1:c.2902T>G	XP_011523634.1:p.Cys968Gly
XM_011525333.1:c.2902T>G	XP_011523635.1:p.Cys968Gly
XM_011525334.1:c.2902T>G	XP_011523636.1:p.Cys968Gly
XM_011525335.1:c.2842T>G	XP_011523637.1:p.Cys948Gly
XM_011525336.1:c.2782T>G	XP_011523638.1:p.Cys928Gly
XM_011525337.1:c.2701T>G	XP_011523639.1:p.Cys901Gly
XM_011525338.1:c.2419T>G	XP_011523640.1:p.Cys807Gly
XM_011525332.3:c.2902T>G	XP_011523634.1:p.Cys968Gly
XM_011525333.3:c.2902T>G	XP_011523635.1:p.Cys968Gly
XM_011525334.2:c.2902T>G	XP_011523636.1:p.Cys968Gly
XM_011525335.3:c.2842T>G	XP_011523637.1:p.Cys948Gly
XM_011525336.2:c.2782T>G	XP_011523638.1:p.Cys928Gly
XM_011525337.2:c.2701T>G	XP_011523639.1:p.Cys901Gly
XM_011525338.2:c.2419T>G	XP_011523640.1:p.Cys807Gly
XM_017025200.1:c.2359T>G	XP_016880689.1:p.Cys787Gly
XM_017025201.1:c.2359T>G	XP_016880690.1:p.Cys787Gly
XM_017025202.1:c.988T>G	XP_016880691.1:p.Cys330Gly
XM_017025203.1:c.988T>G	XP_016880692.1:p.Cys330Gly
NM_032043.3:c.2842T>G MANE Select	NP_114432.2:p.Cys948Gly