Canonical Allele Identifier: CA501150468

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59793317A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61715956A>G , CM000679.2:g.61715956A>G	GRCh38
NC_000017.10:g.59793317A>G , CM000679.1:g.59793317A>G	GRCh37
NC_000017.9:g.57148099A>G	NCBI36
NG_007409.2:g.152604T>C , LRG_300:g.152604T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2617T>C	ENSP00000507191.1:n.2617T>C
ENST00000682073.1:n.1227T>C
ENST00000682433.1:n.1566T>C
ENST00000682453.1:c.2487T>C	ENSP00000506943.1:p.Leu829=
ENST00000682477.1:c.*1913T>C	ENSP00000507075.1:n.*1913T>C
ENST00000682589.1:n.8364T>C
ENST00000682755.1:c.2265T>C	ENSP00000507660.1:p.Leu755=
ENST00000682989.1:c.2487T>C	ENSP00000507786.1:p.Leu829=
ENST00000683039.1:c.2487T>C	ENSP00000508303.1:p.Leu829=
ENST00000683235.1:c.2487T>C	ENSP00000507646.1:p.Leu829=
ENST00000683535.1:n.617T>C
ENST00000684471.1:n.900T>C
ENST00000684584.1:c.1980T>C	ENSP00000508044.1:p.Leu660=
ENST00000684626.1:n.816T>C
ENST00000684769.1:c.552T>C	ENSP00000507691.1:p.Leu184=
ENST00000259008.7:c.2487T>C MANE Select	ENSP00000259008.2:p.Leu829=
ENST00000259008.6:c.2487T>C	ENSP00000259008.2:p.Leu829=
ENST00000577598.5:c.2487T>C	ENSP00000464654.1:p.Leu829=
NM_032043.2:c.2487T>C , LRG_300t1:c.2487T>C	NP_114432.2:p.Leu829=
XM_011525332.1:c.2547T>C	XP_011523634.1:p.Leu849=
XM_011525333.1:c.2547T>C	XP_011523635.1:p.Leu849=
XM_011525334.1:c.2547T>C	XP_011523636.1:p.Leu849=
XM_011525335.1:c.2487T>C	XP_011523637.1:p.Leu829=
XM_011525336.1:c.2427T>C	XP_011523638.1:p.Leu809=
XM_011525337.1:c.2346T>C	XP_011523639.1:p.Leu782=
XM_011525338.1:c.2064T>C	XP_011523640.1:p.Leu688=
XM_011525340.1:c.2547T>C	XP_011523642.1:p.Leu849=
XM_011525332.3:c.2547T>C	XP_011523634.1:p.Leu849=
XM_011525333.3:c.2547T>C	XP_011523635.1:p.Leu849=
XM_011525334.2:c.2547T>C	XP_011523636.1:p.Leu849=
XM_011525335.3:c.2487T>C	XP_011523637.1:p.Leu829=
XM_011525336.2:c.2427T>C	XP_011523638.1:p.Leu809=
XM_011525337.2:c.2346T>C	XP_011523639.1:p.Leu782=
XM_011525338.2:c.2064T>C	XP_011523640.1:p.Leu688=
XM_011525340.3:c.2547T>C	XP_011523642.1:p.Leu849=
XM_017025200.1:c.2004T>C	XP_016880689.1:p.Leu668=
XM_017025201.1:c.2004T>C	XP_016880690.1:p.Leu668=
XM_017025202.1:c.633T>C	XP_016880691.1:p.Leu211=
XM_017025203.1:c.633T>C	XP_016880692.1:p.Leu211=
NM_032043.3:c.2487T>C MANE Select	NP_114432.2:p.Leu829=