Canonical Allele Identifier: CA400479144

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 823289
• ClinVar RCV Id: RCV001019418 ; RCV002550846
• dbSNP Id: rs1603275338
• MyVariant Identifiers: chr17:g.59761162G>C (hg19) ; chr17:g.61683801G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683801G>C , CM000679.2:g.61683801G>C	GRCh38
NC_000017.10:g.59761162G>C , CM000679.1:g.59761162G>C	GRCh37
NC_000017.9:g.57115944G>C	NCBI36
NG_007409.2:g.184759C>G , LRG_300:g.184759C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1985C>G
ENST00000682453.1:c.3245C>G	ENSP00000506943.1:p.Thr1082Ser
ENST00000682477.1:c.*2671C>G	ENSP00000507075.1:n.*2671C>G
ENST00000682589.1:n.9122C>G
ENST00000682755.1:c.3023C>G	ENSP00000507660.1:p.Thr1008Ser
ENST00000682989.1:c.*336C>G	ENSP00000507786.1:n.*336C>G
ENST00000683039.1:c.3245C>G	ENSP00000508303.1:p.Thr1082Ser
ENST00000683235.1:c.*660C>G	ENSP00000507646.1:n.*660C>G
ENST00000683535.1:n.1375C>G
ENST00000684584.1:c.2408C>G	ENSP00000508044.1:p.Thr803Ser
ENST00000684626.1:n.1491C>G
ENST00000684769.1:c.1435C>G	ENSP00000507691.1:n.1435C>G
ENST00000259008.7:c.3245C>G MANE Select	ENSP00000259008.2:p.Thr1082Ser
ENST00000259008.6:c.3245C>G	ENSP00000259008.2:p.Thr1082Ser
NM_032043.2:c.3245C>G , LRG_300t1:c.3245C>G	NP_114432.2:p.Thr1082Ser
XM_011525332.1:c.3305C>G	XP_011523634.1:p.Thr1102Ser
XM_011525333.1:c.3305C>G	XP_011523635.1:p.Thr1102Ser
XM_011525334.1:c.3305C>G	XP_011523636.1:p.Thr1102Ser
XM_011525335.1:c.3245C>G	XP_011523637.1:p.Thr1082Ser
XM_011525336.1:c.3185C>G	XP_011523638.1:p.Thr1062Ser
XM_011525337.1:c.3104C>G	XP_011523639.1:p.Thr1035Ser
XM_011525338.1:c.2822C>G	XP_011523640.1:p.Thr941Ser
XM_011525332.3:c.3305C>G	XP_011523634.1:p.Thr1102Ser
XM_011525333.3:c.3305C>G	XP_011523635.1:p.Thr1102Ser
XM_011525334.2:c.3305C>G	XP_011523636.1:p.Thr1102Ser
XM_011525335.3:c.3245C>G	XP_011523637.1:p.Thr1082Ser
XM_011525336.2:c.3185C>G	XP_011523638.1:p.Thr1062Ser
XM_011525337.2:c.3104C>G	XP_011523639.1:p.Thr1035Ser
XM_011525338.2:c.2822C>G	XP_011523640.1:p.Thr941Ser
XM_017025200.1:c.2762C>G	XP_016880689.1:p.Thr921Ser
XM_017025201.1:c.2762C>G	XP_016880690.1:p.Thr921Ser
XM_017025202.1:c.1391C>G	XP_016880691.1:p.Thr464Ser
XM_017025203.1:c.1391C>G	XP_016880692.1:p.Thr464Ser
NM_032043.3:c.3245C>G MANE Select	NP_114432.2:p.Thr1082Ser