Canonical Allele Identifier: CA167441

Gene: BRIP1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685878T>G , CM000679.2:g.61685878T>G	GRCh38
NC_000017.10:g.59763239T>G , CM000679.1:g.59763239T>G	GRCh37
NC_000017.9:g.57118021T>G	NCBI36
NG_007409.2:g.182682A>C , LRG_300:g.182682A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2993A>C	ENSP00000507191.1:n.2993A>C
ENST00000682073.1:n.1603A>C
ENST00000682433.1:n.1942A>C
ENST00000682453.1:c.2863A>C	ENSP00000506943.1:p.Asn955His
ENST00000682477.1:c.*2289A>C	ENSP00000507075.1:n.*2289A>C
ENST00000682589.1:n.8740A>C
ENST00000682755.1:c.2641A>C	ENSP00000507660.1:p.Asn881His
ENST00000682989.1:c.2610-1738A>C	ENSP00000507786.1:n.2610-1738A>C
ENST00000683039.1:c.2863A>C	ENSP00000508303.1:p.Asn955His
ENST00000683235.1:c.*278A>C	ENSP00000507646.1:n.*278A>C
ENST00000683535.1:n.993A>C
ENST00000684471.1:n.1276A>C
ENST00000684584.1:c.2069-1738A>C	ENSP00000508044.1:n.2069-1738A>C
ENST00000684626.1:n.1109A>C
ENST00000684769.1:c.1053A>C	ENSP00000507691.1:n.1053A>C
ENST00000259008.7:c.2863A>C MANE Select	ENSP00000259008.2:p.Asn955His
ENST00000259008.6:c.2863A>C	ENSP00000259008.2:p.Asn955His
ENST00000577598.5:c.2863A>C	ENSP00000464654.1:p.Asn955His
NM_032043.2:c.2863A>C , LRG_300t1:c.2863A>C	NP_114432.2:p.Asn955His
XM_011525332.1:c.2923A>C	XP_011523634.1:p.Asn975His
XM_011525333.1:c.2923A>C	XP_011523635.1:p.Asn975His
XM_011525334.1:c.2923A>C	XP_011523636.1:p.Asn975His
XM_011525335.1:c.2863A>C	XP_011523637.1:p.Asn955His
XM_011525336.1:c.2803A>C	XP_011523638.1:p.Asn935His
XM_011525337.1:c.2722A>C	XP_011523639.1:p.Asn908His
XM_011525338.1:c.2440A>C	XP_011523640.1:p.Asn814His
XM_011525332.3:c.2923A>C	XP_011523634.1:p.Asn975His
XM_011525333.3:c.2923A>C	XP_011523635.1:p.Asn975His
XM_011525334.2:c.2923A>C	XP_011523636.1:p.Asn975His
XM_011525335.3:c.2863A>C	XP_011523637.1:p.Asn955His
XM_011525336.2:c.2803A>C	XP_011523638.1:p.Asn935His
XM_011525337.2:c.2722A>C	XP_011523639.1:p.Asn908His
XM_011525338.2:c.2440A>C	XP_011523640.1:p.Asn814His
XM_017025200.1:c.2380A>C	XP_016880689.1:p.Asn794His
XM_017025201.1:c.2380A>C	XP_016880690.1:p.Asn794His
XM_017025202.1:c.1009A>C	XP_016880691.1:p.Asn337His
XM_017025203.1:c.1009A>C	XP_016880692.1:p.Asn337His
NM_032043.3:c.2863A>C MANE Select	NP_114432.2:p.Asn955His