Canonical Allele Identifier: CA400477789

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1055606
• ClinVar RCV Id: RCV001364306
• dbSNP Id: rs2061296981
• MyVariant Identifiers: chr17:g.59760705A>C (hg19) ; chr17:g.61683344A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683344A>C , CM000679.2:g.61683344A>C	GRCh38
NC_000017.10:g.59760705A>C , CM000679.1:g.59760705A>C	GRCh37
NC_000017.9:g.57115487A>C	NCBI36
NG_007409.2:g.185216T>G , LRG_300:g.185216T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2442T>G
ENST00000682453.1:c.3702T>G	ENSP00000506943.1:p.Phe1234Leu
ENST00000682477.1:c.*3128T>G	ENSP00000507075.1:n.*3128T>G
ENST00000682589.1:n.9579T>G
ENST00000682755.1:c.3480T>G	ENSP00000507660.1:p.Phe1160Leu
ENST00000682989.1:c.*793T>G	ENSP00000507786.1:n.*793T>G
ENST00000683039.1:c.3702T>G	ENSP00000508303.1:p.Phe1234Leu
ENST00000683235.1:c.*1117T>G	ENSP00000507646.1:n.*1117T>G
ENST00000683535.1:n.1832T>G
ENST00000684584.1:c.2865T>G	ENSP00000508044.1:p.Phe955Leu
ENST00000684626.1:n.1948T>G
ENST00000684769.1:c.1892T>G	ENSP00000507691.1:n.1892T>G
ENST00000259008.7:c.3702T>G MANE Select	ENSP00000259008.2:p.Phe1234Leu
ENST00000259008.6:c.3702T>G	ENSP00000259008.2:p.Phe1234Leu
NM_032043.2:c.3702T>G , LRG_300t1:c.3702T>G	NP_114432.2:p.Phe1234Leu
XM_011525332.1:c.3762T>G	XP_011523634.1:p.Phe1254Leu
XM_011525333.1:c.3762T>G	XP_011523635.1:p.Phe1254Leu
XM_011525334.1:c.3762T>G	XP_011523636.1:p.Phe1254Leu
XM_011525335.1:c.3702T>G	XP_011523637.1:p.Phe1234Leu
XM_011525336.1:c.3642T>G	XP_011523638.1:p.Phe1214Leu
XM_011525337.1:c.3561T>G	XP_011523639.1:p.Phe1187Leu
XM_011525338.1:c.3279T>G	XP_011523640.1:p.Phe1093Leu
XM_011525332.3:c.3762T>G	XP_011523634.1:p.Phe1254Leu
XM_011525333.3:c.3762T>G	XP_011523635.1:p.Phe1254Leu
XM_011525334.2:c.3762T>G	XP_011523636.1:p.Phe1254Leu
XM_011525335.3:c.3702T>G	XP_011523637.1:p.Phe1234Leu
XM_011525336.2:c.3642T>G	XP_011523638.1:p.Phe1214Leu
XM_011525337.2:c.3561T>G	XP_011523639.1:p.Phe1187Leu
XM_011525338.2:c.3279T>G	XP_011523640.1:p.Phe1093Leu
XM_017025200.1:c.3219T>G	XP_016880689.1:p.Phe1073Leu
XM_017025201.1:c.3219T>G	XP_016880690.1:p.Phe1073Leu
XM_017025202.1:c.1848T>G	XP_016880691.1:p.Phe616Leu
XM_017025203.1:c.1848T>G	XP_016880692.1:p.Phe616Leu
NM_032043.3:c.3702T>G MANE Select	NP_114432.2:p.Phe1234Leu