Canonical Allele Identifier: CA400479076

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1442619
• ClinVar RCV Id: RCV001953086
• dbSNP Id: rs587780830
• MyVariant Identifiers: chr17:g.59761132G>C (hg19) ; chr17:g.61683771G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683771G>C , CM000679.2:g.61683771G>C	GRCh38
NC_000017.10:g.59761132G>C , CM000679.1:g.59761132G>C	GRCh37
NC_000017.9:g.57115914G>C	NCBI36
NG_007409.2:g.184789C>G , LRG_300:g.184789C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2015C>G
ENST00000682453.1:c.3275C>G	ENSP00000506943.1:p.Pro1092Arg
ENST00000682477.1:c.*2701C>G	ENSP00000507075.1:n.*2701C>G
ENST00000682589.1:n.9152C>G
ENST00000682755.1:c.3053C>G	ENSP00000507660.1:p.Pro1018Arg
ENST00000682989.1:c.*366C>G	ENSP00000507786.1:n.*366C>G
ENST00000683039.1:c.3275C>G	ENSP00000508303.1:p.Pro1092Arg
ENST00000683235.1:c.*690C>G	ENSP00000507646.1:n.*690C>G
ENST00000683535.1:n.1405C>G
ENST00000684584.1:c.2438C>G	ENSP00000508044.1:p.Pro813Arg
ENST00000684626.1:n.1521C>G
ENST00000684769.1:c.1465C>G	ENSP00000507691.1:n.1465C>G
ENST00000259008.7:c.3275C>G MANE Select	ENSP00000259008.2:p.Pro1092Arg
ENST00000259008.6:c.3275C>G	ENSP00000259008.2:p.Pro1092Arg
NM_032043.2:c.3275C>G , LRG_300t1:c.3275C>G	NP_114432.2:p.Pro1092Arg
XM_011525332.1:c.3335C>G	XP_011523634.1:p.Pro1112Arg
XM_011525333.1:c.3335C>G	XP_011523635.1:p.Pro1112Arg
XM_011525334.1:c.3335C>G	XP_011523636.1:p.Pro1112Arg
XM_011525335.1:c.3275C>G	XP_011523637.1:p.Pro1092Arg
XM_011525336.1:c.3215C>G	XP_011523638.1:p.Pro1072Arg
XM_011525337.1:c.3134C>G	XP_011523639.1:p.Pro1045Arg
XM_011525338.1:c.2852C>G	XP_011523640.1:p.Pro951Arg
XM_011525332.3:c.3335C>G	XP_011523634.1:p.Pro1112Arg
XM_011525333.3:c.3335C>G	XP_011523635.1:p.Pro1112Arg
XM_011525334.2:c.3335C>G	XP_011523636.1:p.Pro1112Arg
XM_011525335.3:c.3275C>G	XP_011523637.1:p.Pro1092Arg
XM_011525336.2:c.3215C>G	XP_011523638.1:p.Pro1072Arg
XM_011525337.2:c.3134C>G	XP_011523639.1:p.Pro1045Arg
XM_011525338.2:c.2852C>G	XP_011523640.1:p.Pro951Arg
XM_017025200.1:c.2792C>G	XP_016880689.1:p.Pro931Arg
XM_017025201.1:c.2792C>G	XP_016880690.1:p.Pro931Arg
XM_017025202.1:c.1421C>G	XP_016880691.1:p.Pro474Arg
XM_017025203.1:c.1421C>G	XP_016880692.1:p.Pro474Arg
NM_032043.3:c.3275C>G MANE Select	NP_114432.2:p.Pro1092Arg