Canonical Allele Identifier: CA501335252

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 485457
• ClinVar RCV Id: RCV000561759
• dbSNP Id: rs1555572536
• MyVariant Identifiers: chr17:g.59760870T>C (hg19) ; chr17:g.61683509T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683509T>C , CM000679.2:g.61683509T>C	GRCh38
NC_000017.10:g.59760870T>C , CM000679.1:g.59760870T>C	GRCh37
NC_000017.9:g.57115652T>C	NCBI36
NG_007409.2:g.185051A>G , LRG_300:g.185051A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2277A>G
ENST00000682453.1:c.3537A>G	ENSP00000506943.1:p.Val1179=
ENST00000682477.1:c.*2963A>G	ENSP00000507075.1:n.*2963A>G
ENST00000682589.1:n.9414A>G
ENST00000682755.1:c.3315A>G	ENSP00000507660.1:p.Val1105=
ENST00000682989.1:c.*628A>G	ENSP00000507786.1:n.*628A>G
ENST00000683039.1:c.3537A>G	ENSP00000508303.1:p.Val1179=
ENST00000683235.1:c.*952A>G	ENSP00000507646.1:n.*952A>G
ENST00000683535.1:n.1667A>G
ENST00000684584.1:c.2700A>G	ENSP00000508044.1:p.Val900=
ENST00000684626.1:n.1783A>G
ENST00000684769.1:c.1727A>G	ENSP00000507691.1:n.1727A>G
ENST00000259008.7:c.3537A>G MANE Select	ENSP00000259008.2:p.Val1179=
ENST00000259008.6:c.3537A>G	ENSP00000259008.2:p.Val1179=
NM_032043.2:c.3537A>G , LRG_300t1:c.3537A>G	NP_114432.2:p.Val1179=
XM_011525332.1:c.3597A>G	XP_011523634.1:p.Val1199=
XM_011525333.1:c.3597A>G	XP_011523635.1:p.Val1199=
XM_011525334.1:c.3597A>G	XP_011523636.1:p.Val1199=
XM_011525335.1:c.3537A>G	XP_011523637.1:p.Val1179=
XM_011525336.1:c.3477A>G	XP_011523638.1:p.Val1159=
XM_011525337.1:c.3396A>G	XP_011523639.1:p.Val1132=
XM_011525338.1:c.3114A>G	XP_011523640.1:p.Val1038=
XM_011525332.3:c.3597A>G	XP_011523634.1:p.Val1199=
XM_011525333.3:c.3597A>G	XP_011523635.1:p.Val1199=
XM_011525334.2:c.3597A>G	XP_011523636.1:p.Val1199=
XM_011525335.3:c.3537A>G	XP_011523637.1:p.Val1179=
XM_011525336.2:c.3477A>G	XP_011523638.1:p.Val1159=
XM_011525337.2:c.3396A>G	XP_011523639.1:p.Val1132=
XM_011525338.2:c.3114A>G	XP_011523640.1:p.Val1038=
XM_017025200.1:c.3054A>G	XP_016880689.1:p.Val1018=
XM_017025201.1:c.3054A>G	XP_016880690.1:p.Val1018=
XM_017025202.1:c.1683A>G	XP_016880691.1:p.Val561=
XM_017025203.1:c.1683A>G	XP_016880692.1:p.Val561=
NM_032043.3:c.3537A>G MANE Select	NP_114432.2:p.Val1179=