Canonical Allele Identifier: CA501144547

Gene: BRIP1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61693431A>G , CM000679.2:g.61693431A>G	GRCh38
NC_000017.10:g.59770792A>G , CM000679.1:g.59770792A>G	GRCh37
NC_000017.9:g.57125574A>G	NCBI36
NG_007409.2:g.175129T>C , LRG_300:g.175129T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2704T>C	ENSP00000507191.1:n.2704T>C
ENST00000682073.1:n.1314T>C
ENST00000682433.1:n.1653T>C
ENST00000682453.1:c.2574T>C	ENSP00000506943.1:p.Ser858=
ENST00000682477.1:c.*2000T>C	ENSP00000507075.1:n.*2000T>C
ENST00000682589.1:n.8451T>C
ENST00000682755.1:c.2352T>C	ENSP00000507660.1:p.Ser784=
ENST00000682989.1:c.2493-4959T>C	ENSP00000507786.1:n.2493-4959T>C
ENST00000683039.1:c.2574T>C	ENSP00000508303.1:p.Ser858=
ENST00000683235.1:c.2493-7266T>C	ENSP00000507646.1:n.2493-7266T>C
ENST00000683535.1:n.704T>C
ENST00000684471.1:n.987T>C
ENST00000684584.1:c.2067T>C	ENSP00000508044.1:p.Ser689=
ENST00000684626.1:n.822-7266T>C
ENST00000684769.1:c.639T>C	ENSP00000507691.1:p.Ser213=
ENST00000259008.7:c.2574T>C MANE Select	ENSP00000259008.2:p.Ser858=
ENST00000259008.6:c.2574T>C	ENSP00000259008.2:p.Ser858=
ENST00000577598.5:c.2574T>C	ENSP00000464654.1:p.Ser858=
NM_032043.2:c.2574T>C , LRG_300t1:c.2574T>C	NP_114432.2:p.Ser858=
XM_011525332.1:c.2634T>C	XP_011523634.1:p.Ser878=
XM_011525333.1:c.2634T>C	XP_011523635.1:p.Ser878=
XM_011525334.1:c.2634T>C	XP_011523636.1:p.Ser878=
XM_011525335.1:c.2574T>C	XP_011523637.1:p.Ser858=
XM_011525336.1:c.2514T>C	XP_011523638.1:p.Ser838=
XM_011525337.1:c.2433T>C	XP_011523639.1:p.Ser811=
XM_011525338.1:c.2151T>C	XP_011523640.1:p.Ser717=
XM_011525340.1:c.2553-7266T>C	XP_011523642.1:n.2553-7266T>C
XM_011525332.3:c.2634T>C	XP_011523634.1:p.Ser878=
XM_011525333.3:c.2634T>C	XP_011523635.1:p.Ser878=
XM_011525334.2:c.2634T>C	XP_011523636.1:p.Ser878=
XM_011525335.3:c.2574T>C	XP_011523637.1:p.Ser858=
XM_011525336.2:c.2514T>C	XP_011523638.1:p.Ser838=
XM_011525337.2:c.2433T>C	XP_011523639.1:p.Ser811=
XM_011525338.2:c.2151T>C	XP_011523640.1:p.Ser717=
XM_011525340.3:c.2553-7266T>C	XP_011523642.1:n.2553-7266T>C
XM_017025200.1:c.2091T>C	XP_016880689.1:p.Ser697=
XM_017025201.1:c.2091T>C	XP_016880690.1:p.Ser697=
XM_017025202.1:c.720T>C	XP_016880691.1:p.Ser240=
XM_017025203.1:c.720T>C	XP_016880692.1:p.Ser240=
NM_032043.3:c.2574T>C MANE Select	NP_114432.2:p.Ser858=