Canonical Allele Identifier: CA400479382

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59793312C>G (hg19) ; chr17:g.61715951C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61715951C>G , CM000679.2:g.61715951C>G	GRCh38
NC_000017.10:g.59793312C>G , CM000679.1:g.59793312C>G	GRCh37
NC_000017.9:g.57148094C>G	NCBI36
NG_007409.2:g.152609G>C , LRG_300:g.152609G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2622G>C	ENSP00000507191.1:n.2622G>C
ENST00000682073.1:n.1232G>C
ENST00000682433.1:n.1571G>C
ENST00000682453.1:c.2492G>C	ENSP00000506943.1:p.Arg831Thr
ENST00000682477.1:c.*1918G>C	ENSP00000507075.1:n.*1918G>C
ENST00000682589.1:n.8369G>C
ENST00000682755.1:c.2270G>C	ENSP00000507660.1:p.Arg757Thr
ENST00000682989.1:c.2492G>C	ENSP00000507786.1:p.Arg831Thr
ENST00000683039.1:c.2492G>C	ENSP00000508303.1:p.Arg831Thr
ENST00000683235.1:c.2492G>C	ENSP00000507646.1:p.Arg831Thr
ENST00000683535.1:n.622G>C
ENST00000684471.1:n.905G>C
ENST00000684584.1:c.1985G>C	ENSP00000508044.1:p.Arg662Thr
ENST00000684626.1:n.821G>C
ENST00000684769.1:c.557G>C	ENSP00000507691.1:p.Arg186Thr
ENST00000259008.7:c.2492G>C MANE Select	ENSP00000259008.2:p.Arg831Thr
ENST00000259008.6:c.2492G>C	ENSP00000259008.2:p.Arg831Thr
ENST00000577598.5:c.2492G>C	ENSP00000464654.1:p.Arg831Thr
NM_032043.2:c.2492G>C , LRG_300t1:c.2492G>C	NP_114432.2:p.Arg831Thr
XM_011525332.1:c.2552G>C	XP_011523634.1:p.Arg851Thr
XM_011525333.1:c.2552G>C	XP_011523635.1:p.Arg851Thr
XM_011525334.1:c.2552G>C	XP_011523636.1:p.Arg851Thr
XM_011525335.1:c.2492G>C	XP_011523637.1:p.Arg831Thr
XM_011525336.1:c.2432G>C	XP_011523638.1:p.Arg811Thr
XM_011525337.1:c.2351G>C	XP_011523639.1:p.Arg784Thr
XM_011525338.1:c.2069G>C	XP_011523640.1:p.Arg690Thr
XM_011525340.1:c.2552G>C	XP_011523642.1:p.Arg851Thr
XM_011525332.3:c.2552G>C	XP_011523634.1:p.Arg851Thr
XM_011525333.3:c.2552G>C	XP_011523635.1:p.Arg851Thr
XM_011525334.2:c.2552G>C	XP_011523636.1:p.Arg851Thr
XM_011525335.3:c.2492G>C	XP_011523637.1:p.Arg831Thr
XM_011525336.2:c.2432G>C	XP_011523638.1:p.Arg811Thr
XM_011525337.2:c.2351G>C	XP_011523639.1:p.Arg784Thr
XM_011525338.2:c.2069G>C	XP_011523640.1:p.Arg690Thr
XM_011525340.3:c.2552G>C	XP_011523642.1:p.Arg851Thr
XM_017025200.1:c.2009G>C	XP_016880689.1:p.Arg670Thr
XM_017025201.1:c.2009G>C	XP_016880690.1:p.Arg670Thr
XM_017025202.1:c.638G>C	XP_016880691.1:p.Arg213Thr
XM_017025203.1:c.638G>C	XP_016880692.1:p.Arg213Thr
NM_032043.3:c.2492G>C MANE Select	NP_114432.2:p.Arg831Thr