Canonical Allele Identifier: CA400478383

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2129604
• ClinVar RCV Id: RCV003040619
• dbSNP Id: rs752850661
• MyVariant Identifiers: chr17:g.59760874T>C (hg19) ; chr17:g.61683513T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683513T>C , CM000679.2:g.61683513T>C	GRCh38
NC_000017.10:g.59760874T>C , CM000679.1:g.59760874T>C	GRCh37
NC_000017.9:g.57115656T>C	NCBI36
NG_007409.2:g.185047A>G , LRG_300:g.185047A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2273A>G
ENST00000682453.1:c.3533A>G	ENSP00000506943.1:p.Glu1178Gly
ENST00000682477.1:c.*2959A>G	ENSP00000507075.1:n.*2959A>G
ENST00000682589.1:n.9410A>G
ENST00000682755.1:c.3311A>G	ENSP00000507660.1:p.Glu1104Gly
ENST00000682989.1:c.*624A>G	ENSP00000507786.1:n.*624A>G
ENST00000683039.1:c.3533A>G	ENSP00000508303.1:p.Glu1178Gly
ENST00000683235.1:c.*948A>G	ENSP00000507646.1:n.*948A>G
ENST00000683535.1:n.1663A>G
ENST00000684584.1:c.2696A>G	ENSP00000508044.1:p.Glu899Gly
ENST00000684626.1:n.1779A>G
ENST00000684769.1:c.1723A>G	ENSP00000507691.1:n.1723A>G
ENST00000259008.7:c.3533A>G MANE Select	ENSP00000259008.2:p.Glu1178Gly
ENST00000259008.6:c.3533A>G	ENSP00000259008.2:p.Glu1178Gly
NM_032043.2:c.3533A>G , LRG_300t1:c.3533A>G	NP_114432.2:p.Glu1178Gly
XM_011525332.1:c.3593A>G	XP_011523634.1:p.Glu1198Gly
XM_011525333.1:c.3593A>G	XP_011523635.1:p.Glu1198Gly
XM_011525334.1:c.3593A>G	XP_011523636.1:p.Glu1198Gly
XM_011525335.1:c.3533A>G	XP_011523637.1:p.Glu1178Gly
XM_011525336.1:c.3473A>G	XP_011523638.1:p.Glu1158Gly
XM_011525337.1:c.3392A>G	XP_011523639.1:p.Glu1131Gly
XM_011525338.1:c.3110A>G	XP_011523640.1:p.Glu1037Gly
XM_011525332.3:c.3593A>G	XP_011523634.1:p.Glu1198Gly
XM_011525333.3:c.3593A>G	XP_011523635.1:p.Glu1198Gly
XM_011525334.2:c.3593A>G	XP_011523636.1:p.Glu1198Gly
XM_011525335.3:c.3533A>G	XP_011523637.1:p.Glu1178Gly
XM_011525336.2:c.3473A>G	XP_011523638.1:p.Glu1158Gly
XM_011525337.2:c.3392A>G	XP_011523639.1:p.Glu1131Gly
XM_011525338.2:c.3110A>G	XP_011523640.1:p.Glu1037Gly
XM_017025200.1:c.3050A>G	XP_016880689.1:p.Glu1017Gly
XM_017025201.1:c.3050A>G	XP_016880690.1:p.Glu1017Gly
XM_017025202.1:c.1679A>G	XP_016880691.1:p.Glu560Gly
XM_017025203.1:c.1679A>G	XP_016880692.1:p.Glu560Gly
NM_032043.3:c.3533A>G MANE Select	NP_114432.2:p.Glu1178Gly