Canonical Allele Identifier: CA400479363

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59761213C>G (hg19) ; chr17:g.61683852C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683852C>G , CM000679.2:g.61683852C>G	GRCh38
NC_000017.10:g.59761213C>G , CM000679.1:g.59761213C>G	GRCh37
NC_000017.9:g.57115995C>G	NCBI36
NG_007409.2:g.184708G>C , LRG_300:g.184708G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1934G>C
ENST00000682453.1:c.3194G>C	ENSP00000506943.1:p.Gly1065Ala
ENST00000682477.1:c.*2620G>C	ENSP00000507075.1:n.*2620G>C
ENST00000682589.1:n.9071G>C
ENST00000682755.1:c.2972G>C	ENSP00000507660.1:p.Gly991Ala
ENST00000682989.1:c.*285G>C	ENSP00000507786.1:n.*285G>C
ENST00000683039.1:c.3194G>C	ENSP00000508303.1:p.Gly1065Ala
ENST00000683235.1:c.*609G>C	ENSP00000507646.1:n.*609G>C
ENST00000683535.1:n.1324G>C
ENST00000684584.1:c.2357G>C	ENSP00000508044.1:p.Gly786Ala
ENST00000684626.1:n.1440G>C
ENST00000684769.1:c.1384G>C	ENSP00000507691.1:n.1384G>C
ENST00000259008.7:c.3194G>C MANE Select	ENSP00000259008.2:p.Gly1065Ala
ENST00000259008.6:c.3194G>C	ENSP00000259008.2:p.Gly1065Ala
NM_032043.2:c.3194G>C , LRG_300t1:c.3194G>C	NP_114432.2:p.Gly1065Ala
XM_011525332.1:c.3254G>C	XP_011523634.1:p.Gly1085Ala
XM_011525333.1:c.3254G>C	XP_011523635.1:p.Gly1085Ala
XM_011525334.1:c.3254G>C	XP_011523636.1:p.Gly1085Ala
XM_011525335.1:c.3194G>C	XP_011523637.1:p.Gly1065Ala
XM_011525336.1:c.3134G>C	XP_011523638.1:p.Gly1045Ala
XM_011525337.1:c.3053G>C	XP_011523639.1:p.Gly1018Ala
XM_011525338.1:c.2771G>C	XP_011523640.1:p.Gly924Ala
XM_011525332.3:c.3254G>C	XP_011523634.1:p.Gly1085Ala
XM_011525333.3:c.3254G>C	XP_011523635.1:p.Gly1085Ala
XM_011525334.2:c.3254G>C	XP_011523636.1:p.Gly1085Ala
XM_011525335.3:c.3194G>C	XP_011523637.1:p.Gly1065Ala
XM_011525336.2:c.3134G>C	XP_011523638.1:p.Gly1045Ala
XM_011525337.2:c.3053G>C	XP_011523639.1:p.Gly1018Ala
XM_011525338.2:c.2771G>C	XP_011523640.1:p.Gly924Ala
XM_017025200.1:c.2711G>C	XP_016880689.1:p.Gly904Ala
XM_017025201.1:c.2711G>C	XP_016880690.1:p.Gly904Ala
XM_017025202.1:c.1340G>C	XP_016880691.1:p.Gly447Ala
XM_017025203.1:c.1340G>C	XP_016880692.1:p.Gly447Ala
NM_032043.3:c.3194G>C MANE Select	NP_114432.2:p.Gly1065Ala