Canonical Allele Identifier: CA400481331

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59763253T>C (hg19) ; chr17:g.61685892T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685892T>C , CM000679.2:g.61685892T>C	GRCh38
NC_000017.10:g.59763253T>C , CM000679.1:g.59763253T>C	GRCh37
NC_000017.9:g.57118035T>C	NCBI36
NG_007409.2:g.182668A>G , LRG_300:g.182668A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2979A>G	ENSP00000507191.1:n.2979A>G
ENST00000682073.1:n.1589A>G
ENST00000682433.1:n.1928A>G
ENST00000682453.1:c.2849A>G	ENSP00000506943.1:p.Lys950Arg
ENST00000682477.1:c.*2275A>G	ENSP00000507075.1:n.*2275A>G
ENST00000682589.1:n.8726A>G
ENST00000682755.1:c.2627A>G	ENSP00000507660.1:p.Lys876Arg
ENST00000682989.1:c.2610-1752A>G	ENSP00000507786.1:n.2610-1752A>G
ENST00000683039.1:c.2849A>G	ENSP00000508303.1:p.Lys950Arg
ENST00000683235.1:c.*264A>G	ENSP00000507646.1:n.*264A>G
ENST00000683535.1:n.979A>G
ENST00000684471.1:n.1262A>G
ENST00000684584.1:c.2069-1752A>G	ENSP00000508044.1:n.2069-1752A>G
ENST00000684626.1:n.1095A>G
ENST00000684769.1:c.1039A>G	ENSP00000507691.1:n.1039A>G
ENST00000259008.7:c.2849A>G MANE Select	ENSP00000259008.2:p.Lys950Arg
ENST00000259008.6:c.2849A>G	ENSP00000259008.2:p.Lys950Arg
ENST00000577598.5:c.2849A>G	ENSP00000464654.1:p.Lys950Arg
NM_032043.2:c.2849A>G , LRG_300t1:c.2849A>G	NP_114432.2:p.Lys950Arg
XM_011525332.1:c.2909A>G	XP_011523634.1:p.Lys970Arg
XM_011525333.1:c.2909A>G	XP_011523635.1:p.Lys970Arg
XM_011525334.1:c.2909A>G	XP_011523636.1:p.Lys970Arg
XM_011525335.1:c.2849A>G	XP_011523637.1:p.Lys950Arg
XM_011525336.1:c.2789A>G	XP_011523638.1:p.Lys930Arg
XM_011525337.1:c.2708A>G	XP_011523639.1:p.Lys903Arg
XM_011525338.1:c.2426A>G	XP_011523640.1:p.Lys809Arg
XM_011525332.3:c.2909A>G	XP_011523634.1:p.Lys970Arg
XM_011525333.3:c.2909A>G	XP_011523635.1:p.Lys970Arg
XM_011525334.2:c.2909A>G	XP_011523636.1:p.Lys970Arg
XM_011525335.3:c.2849A>G	XP_011523637.1:p.Lys950Arg
XM_011525336.2:c.2789A>G	XP_011523638.1:p.Lys930Arg
XM_011525337.2:c.2708A>G	XP_011523639.1:p.Lys903Arg
XM_011525338.2:c.2426A>G	XP_011523640.1:p.Lys809Arg
XM_017025200.1:c.2366A>G	XP_016880689.1:p.Lys789Arg
XM_017025201.1:c.2366A>G	XP_016880690.1:p.Lys789Arg
XM_017025202.1:c.995A>G	XP_016880691.1:p.Lys332Arg
XM_017025203.1:c.995A>G	XP_016880692.1:p.Lys332Arg
NM_032043.3:c.2849A>G MANE Select	NP_114432.2:p.Lys950Arg