Canonical Allele Identifier: CA400481380

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59763265A>C (hg19) ; chr17:g.61685904A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685904A>C , CM000679.2:g.61685904A>C	GRCh38
NC_000017.10:g.59763265A>C , CM000679.1:g.59763265A>C	GRCh37
NC_000017.9:g.57118047A>C	NCBI36
NG_007409.2:g.182656T>G , LRG_300:g.182656T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2967T>G	ENSP00000507191.1:n.2967T>G
ENST00000682073.1:n.1577T>G
ENST00000682433.1:n.1916T>G
ENST00000682453.1:c.2837T>G	ENSP00000506943.1:p.Leu946Arg
ENST00000682477.1:c.*2263T>G	ENSP00000507075.1:n.*2263T>G
ENST00000682589.1:n.8714T>G
ENST00000682755.1:c.2615T>G	ENSP00000507660.1:p.Leu872Arg
ENST00000682989.1:c.2610-1764T>G	ENSP00000507786.1:n.2610-1764T>G
ENST00000683039.1:c.2837T>G	ENSP00000508303.1:p.Leu946Arg
ENST00000683235.1:c.*252T>G	ENSP00000507646.1:n.*252T>G
ENST00000683535.1:n.967T>G
ENST00000684471.1:n.1250T>G
ENST00000684584.1:c.2069-1764T>G	ENSP00000508044.1:n.2069-1764T>G
ENST00000684626.1:n.1083T>G
ENST00000684769.1:c.1027T>G	ENSP00000507691.1:n.1027T>G
ENST00000259008.7:c.2837T>G MANE Select	ENSP00000259008.2:p.Leu946Arg
ENST00000259008.6:c.2837T>G	ENSP00000259008.2:p.Leu946Arg
ENST00000577598.5:c.2837T>G	ENSP00000464654.1:p.Leu946Arg
NM_032043.2:c.2837T>G , LRG_300t1:c.2837T>G	NP_114432.2:p.Leu946Arg
XM_011525332.1:c.2897T>G	XP_011523634.1:p.Leu966Arg
XM_011525333.1:c.2897T>G	XP_011523635.1:p.Leu966Arg
XM_011525334.1:c.2897T>G	XP_011523636.1:p.Leu966Arg
XM_011525335.1:c.2837T>G	XP_011523637.1:p.Leu946Arg
XM_011525336.1:c.2777T>G	XP_011523638.1:p.Leu926Arg
XM_011525337.1:c.2696T>G	XP_011523639.1:p.Leu899Arg
XM_011525338.1:c.2414T>G	XP_011523640.1:p.Leu805Arg
XM_011525332.3:c.2897T>G	XP_011523634.1:p.Leu966Arg
XM_011525333.3:c.2897T>G	XP_011523635.1:p.Leu966Arg
XM_011525334.2:c.2897T>G	XP_011523636.1:p.Leu966Arg
XM_011525335.3:c.2837T>G	XP_011523637.1:p.Leu946Arg
XM_011525336.2:c.2777T>G	XP_011523638.1:p.Leu926Arg
XM_011525337.2:c.2696T>G	XP_011523639.1:p.Leu899Arg
XM_011525338.2:c.2414T>G	XP_011523640.1:p.Leu805Arg
XM_017025200.1:c.2354T>G	XP_016880689.1:p.Leu785Arg
XM_017025201.1:c.2354T>G	XP_016880690.1:p.Leu785Arg
XM_017025202.1:c.983T>G	XP_016880691.1:p.Leu328Arg
XM_017025203.1:c.983T>G	XP_016880692.1:p.Leu328Arg
NM_032043.3:c.2837T>G MANE Select	NP_114432.2:p.Leu946Arg