Canonical Allele Identifier: CA400478969

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59761078T>G (hg19) ; chr17:g.61683717T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683717T>G , CM000679.2:g.61683717T>G	GRCh38
NC_000017.10:g.59761078T>G , CM000679.1:g.59761078T>G	GRCh37
NC_000017.9:g.57115860T>G	NCBI36
NG_007409.2:g.184843A>C , LRG_300:g.184843A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2069A>C
ENST00000682453.1:c.3329A>C	ENSP00000506943.1:p.Glu1110Ala
ENST00000682477.1:c.*2755A>C	ENSP00000507075.1:n.*2755A>C
ENST00000682589.1:n.9206A>C
ENST00000682755.1:c.3107A>C	ENSP00000507660.1:p.Glu1036Ala
ENST00000682989.1:c.*420A>C	ENSP00000507786.1:n.*420A>C
ENST00000683039.1:c.3329A>C	ENSP00000508303.1:p.Glu1110Ala
ENST00000683235.1:c.*744A>C	ENSP00000507646.1:n.*744A>C
ENST00000683535.1:n.1459A>C
ENST00000684584.1:c.2492A>C	ENSP00000508044.1:p.Glu831Ala
ENST00000684626.1:n.1575A>C
ENST00000684769.1:c.1519A>C	ENSP00000507691.1:n.1519A>C
ENST00000259008.7:c.3329A>C MANE Select	ENSP00000259008.2:p.Glu1110Ala
ENST00000259008.6:c.3329A>C	ENSP00000259008.2:p.Glu1110Ala
NM_032043.2:c.3329A>C , LRG_300t1:c.3329A>C	NP_114432.2:p.Glu1110Ala
XM_011525332.1:c.3389A>C	XP_011523634.1:p.Glu1130Ala
XM_011525333.1:c.3389A>C	XP_011523635.1:p.Glu1130Ala
XM_011525334.1:c.3389A>C	XP_011523636.1:p.Glu1130Ala
XM_011525335.1:c.3329A>C	XP_011523637.1:p.Glu1110Ala
XM_011525336.1:c.3269A>C	XP_011523638.1:p.Glu1090Ala
XM_011525337.1:c.3188A>C	XP_011523639.1:p.Glu1063Ala
XM_011525338.1:c.2906A>C	XP_011523640.1:p.Glu969Ala
XM_011525332.3:c.3389A>C	XP_011523634.1:p.Glu1130Ala
XM_011525333.3:c.3389A>C	XP_011523635.1:p.Glu1130Ala
XM_011525334.2:c.3389A>C	XP_011523636.1:p.Glu1130Ala
XM_011525335.3:c.3329A>C	XP_011523637.1:p.Glu1110Ala
XM_011525336.2:c.3269A>C	XP_011523638.1:p.Glu1090Ala
XM_011525337.2:c.3188A>C	XP_011523639.1:p.Glu1063Ala
XM_011525338.2:c.2906A>C	XP_011523640.1:p.Glu969Ala
XM_017025200.1:c.2846A>C	XP_016880689.1:p.Glu949Ala
XM_017025201.1:c.2846A>C	XP_016880690.1:p.Glu949Ala
XM_017025202.1:c.1475A>C	XP_016880691.1:p.Glu492Ala
XM_017025203.1:c.1475A>C	XP_016880692.1:p.Glu492Ala
NM_032043.3:c.3329A>C MANE Select	NP_114432.2:p.Glu1110Ala