Canonical Allele Identifier: CA400479132

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59761159A>C (hg19) ; chr17:g.61683798A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683798A>C , CM000679.2:g.61683798A>C	GRCh38
NC_000017.10:g.59761159A>C , CM000679.1:g.59761159A>C	GRCh37
NC_000017.9:g.57115941A>C	NCBI36
NG_007409.2:g.184762T>G , LRG_300:g.184762T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1988T>G
ENST00000682453.1:c.3248T>G	ENSP00000506943.1:p.Leu1083Arg
ENST00000682477.1:c.*2674T>G	ENSP00000507075.1:n.*2674T>G
ENST00000682589.1:n.9125T>G
ENST00000682755.1:c.3026T>G	ENSP00000507660.1:p.Leu1009Arg
ENST00000682989.1:c.*339T>G	ENSP00000507786.1:n.*339T>G
ENST00000683039.1:c.3248T>G	ENSP00000508303.1:p.Leu1083Arg
ENST00000683235.1:c.*663T>G	ENSP00000507646.1:n.*663T>G
ENST00000683535.1:n.1378T>G
ENST00000684584.1:c.2411T>G	ENSP00000508044.1:p.Leu804Arg
ENST00000684626.1:n.1494T>G
ENST00000684769.1:c.1438T>G	ENSP00000507691.1:n.1438T>G
ENST00000259008.7:c.3248T>G MANE Select	ENSP00000259008.2:p.Leu1083Arg
ENST00000259008.6:c.3248T>G	ENSP00000259008.2:p.Leu1083Arg
NM_032043.2:c.3248T>G , LRG_300t1:c.3248T>G	NP_114432.2:p.Leu1083Arg
XM_011525332.1:c.3308T>G	XP_011523634.1:p.Leu1103Arg
XM_011525333.1:c.3308T>G	XP_011523635.1:p.Leu1103Arg
XM_011525334.1:c.3308T>G	XP_011523636.1:p.Leu1103Arg
XM_011525335.1:c.3248T>G	XP_011523637.1:p.Leu1083Arg
XM_011525336.1:c.3188T>G	XP_011523638.1:p.Leu1063Arg
XM_011525337.1:c.3107T>G	XP_011523639.1:p.Leu1036Arg
XM_011525338.1:c.2825T>G	XP_011523640.1:p.Leu942Arg
XM_011525332.3:c.3308T>G	XP_011523634.1:p.Leu1103Arg
XM_011525333.3:c.3308T>G	XP_011523635.1:p.Leu1103Arg
XM_011525334.2:c.3308T>G	XP_011523636.1:p.Leu1103Arg
XM_011525335.3:c.3248T>G	XP_011523637.1:p.Leu1083Arg
XM_011525336.2:c.3188T>G	XP_011523638.1:p.Leu1063Arg
XM_011525337.2:c.3107T>G	XP_011523639.1:p.Leu1036Arg
XM_011525338.2:c.2825T>G	XP_011523640.1:p.Leu942Arg
XM_017025200.1:c.2765T>G	XP_016880689.1:p.Leu922Arg
XM_017025201.1:c.2765T>G	XP_016880690.1:p.Leu922Arg
XM_017025202.1:c.1394T>G	XP_016880691.1:p.Leu465Arg
XM_017025203.1:c.1394T>G	XP_016880692.1:p.Leu465Arg
NM_032043.3:c.3248T>G MANE Select	NP_114432.2:p.Leu1083Arg