Canonical Allele Identifier: CA400478758

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 929141
• ClinVar RCV Id: RCV001194198
• dbSNP Id: rs2061307605
• MyVariant Identifiers: chr17:g.59760983T>C (hg19) ; chr17:g.61683622T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683622T>C , CM000679.2:g.61683622T>C	GRCh38
NC_000017.10:g.59760983T>C , CM000679.1:g.59760983T>C	GRCh37
NC_000017.9:g.57115765T>C	NCBI36
NG_007409.2:g.184938A>G , LRG_300:g.184938A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2164A>G
ENST00000682453.1:c.3424A>G	ENSP00000506943.1:p.Thr1142Ala
ENST00000682477.1:c.*2850A>G	ENSP00000507075.1:n.*2850A>G
ENST00000682589.1:n.9301A>G
ENST00000682755.1:c.3202A>G	ENSP00000507660.1:p.Thr1068Ala
ENST00000682989.1:c.*515A>G	ENSP00000507786.1:n.*515A>G
ENST00000683039.1:c.3424A>G	ENSP00000508303.1:p.Thr1142Ala
ENST00000683235.1:c.*839A>G	ENSP00000507646.1:n.*839A>G
ENST00000683535.1:n.1554A>G
ENST00000684584.1:c.2587A>G	ENSP00000508044.1:p.Thr863Ala
ENST00000684626.1:n.1670A>G
ENST00000684769.1:c.1614A>G	ENSP00000507691.1:n.1614A>G
ENST00000259008.7:c.3424A>G MANE Select	ENSP00000259008.2:p.Thr1142Ala
ENST00000259008.6:c.3424A>G	ENSP00000259008.2:p.Thr1142Ala
NM_032043.2:c.3424A>G , LRG_300t1:c.3424A>G	NP_114432.2:p.Thr1142Ala
XM_011525332.1:c.3484A>G	XP_011523634.1:p.Thr1162Ala
XM_011525333.1:c.3484A>G	XP_011523635.1:p.Thr1162Ala
XM_011525334.1:c.3484A>G	XP_011523636.1:p.Thr1162Ala
XM_011525335.1:c.3424A>G	XP_011523637.1:p.Thr1142Ala
XM_011525336.1:c.3364A>G	XP_011523638.1:p.Thr1122Ala
XM_011525337.1:c.3283A>G	XP_011523639.1:p.Thr1095Ala
XM_011525338.1:c.3001A>G	XP_011523640.1:p.Thr1001Ala
XM_011525332.3:c.3484A>G	XP_011523634.1:p.Thr1162Ala
XM_011525333.3:c.3484A>G	XP_011523635.1:p.Thr1162Ala
XM_011525334.2:c.3484A>G	XP_011523636.1:p.Thr1162Ala
XM_011525335.3:c.3424A>G	XP_011523637.1:p.Thr1142Ala
XM_011525336.2:c.3364A>G	XP_011523638.1:p.Thr1122Ala
XM_011525337.2:c.3283A>G	XP_011523639.1:p.Thr1095Ala
XM_011525338.2:c.3001A>G	XP_011523640.1:p.Thr1001Ala
XM_017025200.1:c.2941A>G	XP_016880689.1:p.Thr981Ala
XM_017025201.1:c.2941A>G	XP_016880690.1:p.Thr981Ala
XM_017025202.1:c.1570A>G	XP_016880691.1:p.Thr524Ala
XM_017025203.1:c.1570A>G	XP_016880692.1:p.Thr524Ala
NM_032043.3:c.3424A>G MANE Select	NP_114432.2:p.Thr1142Ala