Canonical Allele Identifier: CA400478685

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144075311
• gnomAD v4: 17-61683589-C-G
• COSMIC: COSM4848005 ; COSM4848006
• MyVariant Identifiers: chr17:g.59760950C>G (hg19) ; chr17:g.61683589C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683589C>G , CM000679.2:g.61683589C>G	GRCh38
NC_000017.10:g.59760950C>G , CM000679.1:g.59760950C>G	GRCh37
NC_000017.9:g.57115732C>G	NCBI36
NG_007409.2:g.184971G>C , LRG_300:g.184971G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2197G>C
ENST00000682453.1:c.3457G>C	ENSP00000506943.1:p.Asp1153His
ENST00000682477.1:c.*2883G>C	ENSP00000507075.1:n.*2883G>C
ENST00000682589.1:n.9334G>C
ENST00000682755.1:c.3235G>C	ENSP00000507660.1:p.Asp1079His
ENST00000682989.1:c.*548G>C	ENSP00000507786.1:n.*548G>C
ENST00000683039.1:c.3457G>C	ENSP00000508303.1:p.Asp1153His
ENST00000683235.1:c.*872G>C	ENSP00000507646.1:n.*872G>C
ENST00000683535.1:n.1587G>C
ENST00000684584.1:c.2620G>C	ENSP00000508044.1:p.Asp874His
ENST00000684626.1:n.1703G>C
ENST00000684769.1:c.1647G>C	ENSP00000507691.1:n.1647G>C
ENST00000259008.7:c.3457G>C MANE Select	ENSP00000259008.2:p.Asp1153His
ENST00000259008.6:c.3457G>C	ENSP00000259008.2:p.Asp1153His
NM_032043.2:c.3457G>C , LRG_300t1:c.3457G>C	NP_114432.2:p.Asp1153His
XM_011525332.1:c.3517G>C	XP_011523634.1:p.Asp1173His
XM_011525333.1:c.3517G>C	XP_011523635.1:p.Asp1173His
XM_011525334.1:c.3517G>C	XP_011523636.1:p.Asp1173His
XM_011525335.1:c.3457G>C	XP_011523637.1:p.Asp1153His
XM_011525336.1:c.3397G>C	XP_011523638.1:p.Asp1133His
XM_011525337.1:c.3316G>C	XP_011523639.1:p.Asp1106His
XM_011525338.1:c.3034G>C	XP_011523640.1:p.Asp1012His
XM_011525332.3:c.3517G>C	XP_011523634.1:p.Asp1173His
XM_011525333.3:c.3517G>C	XP_011523635.1:p.Asp1173His
XM_011525334.2:c.3517G>C	XP_011523636.1:p.Asp1173His
XM_011525335.3:c.3457G>C	XP_011523637.1:p.Asp1153His
XM_011525336.2:c.3397G>C	XP_011523638.1:p.Asp1133His
XM_011525337.2:c.3316G>C	XP_011523639.1:p.Asp1106His
XM_011525338.2:c.3034G>C	XP_011523640.1:p.Asp1012His
XM_017025200.1:c.2974G>C	XP_016880689.1:p.Asp992His
XM_017025201.1:c.2974G>C	XP_016880690.1:p.Asp992His
XM_017025202.1:c.1603G>C	XP_016880691.1:p.Asp535His
XM_017025203.1:c.1603G>C	XP_016880692.1:p.Asp535His
NM_032043.3:c.3457G>C MANE Select	NP_114432.2:p.Asp1153His