Canonical Allele Identifier: CA400478879

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2943259
• ClinVar RCV Id: RCV003800377
• MyVariant Identifiers: chr17:g.59761039G>C (hg19) ; chr17:g.61683678G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683678G>C , CM000679.2:g.61683678G>C	GRCh38
NC_000017.10:g.59761039G>C , CM000679.1:g.59761039G>C	GRCh37
NC_000017.9:g.57115821G>C	NCBI36
NG_007409.2:g.184882C>G , LRG_300:g.184882C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2108C>G
ENST00000682453.1:c.3368C>G	ENSP00000506943.1:p.Thr1123Arg
ENST00000682477.1:c.*2794C>G	ENSP00000507075.1:n.*2794C>G
ENST00000682589.1:n.9245C>G
ENST00000682755.1:c.3146C>G	ENSP00000507660.1:p.Thr1049Arg
ENST00000682989.1:c.*459C>G	ENSP00000507786.1:n.*459C>G
ENST00000683039.1:c.3368C>G	ENSP00000508303.1:p.Thr1123Arg
ENST00000683235.1:c.*783C>G	ENSP00000507646.1:n.*783C>G
ENST00000683535.1:n.1498C>G
ENST00000684584.1:c.2531C>G	ENSP00000508044.1:p.Thr844Arg
ENST00000684626.1:n.1614C>G
ENST00000684769.1:c.1558C>G	ENSP00000507691.1:n.1558C>G
ENST00000259008.7:c.3368C>G MANE Select	ENSP00000259008.2:p.Thr1123Arg
ENST00000259008.6:c.3368C>G	ENSP00000259008.2:p.Thr1123Arg
NM_032043.2:c.3368C>G , LRG_300t1:c.3368C>G	NP_114432.2:p.Thr1123Arg
XM_011525332.1:c.3428C>G	XP_011523634.1:p.Thr1143Arg
XM_011525333.1:c.3428C>G	XP_011523635.1:p.Thr1143Arg
XM_011525334.1:c.3428C>G	XP_011523636.1:p.Thr1143Arg
XM_011525335.1:c.3368C>G	XP_011523637.1:p.Thr1123Arg
XM_011525336.1:c.3308C>G	XP_011523638.1:p.Thr1103Arg
XM_011525337.1:c.3227C>G	XP_011523639.1:p.Thr1076Arg
XM_011525338.1:c.2945C>G	XP_011523640.1:p.Thr982Arg
XM_011525332.3:c.3428C>G	XP_011523634.1:p.Thr1143Arg
XM_011525333.3:c.3428C>G	XP_011523635.1:p.Thr1143Arg
XM_011525334.2:c.3428C>G	XP_011523636.1:p.Thr1143Arg
XM_011525335.3:c.3368C>G	XP_011523637.1:p.Thr1123Arg
XM_011525336.2:c.3308C>G	XP_011523638.1:p.Thr1103Arg
XM_011525337.2:c.3227C>G	XP_011523639.1:p.Thr1076Arg
XM_011525338.2:c.2945C>G	XP_011523640.1:p.Thr982Arg
XM_017025200.1:c.2885C>G	XP_016880689.1:p.Thr962Arg
XM_017025201.1:c.2885C>G	XP_016880690.1:p.Thr962Arg
XM_017025202.1:c.1514C>G	XP_016880691.1:p.Thr505Arg
XM_017025203.1:c.1514C>G	XP_016880692.1:p.Thr505Arg
NM_032043.3:c.3368C>G MANE Select	NP_114432.2:p.Thr1123Arg