Canonical Allele Identifier: CA501335124

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1730482
• ClinVar RCV Id: RCV002320950
• MyVariant Identifiers: chr17:g.59761059A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683698A>G , CM000679.2:g.61683698A>G	GRCh38
NC_000017.10:g.59761059A>G , CM000679.1:g.59761059A>G	GRCh37
NC_000017.9:g.57115841A>G	NCBI36
NG_007409.2:g.184862T>C , LRG_300:g.184862T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2088T>C
ENST00000682453.1:c.3348T>C	ENSP00000506943.1:p.Thr1116=
ENST00000682477.1:c.*2774T>C	ENSP00000507075.1:n.*2774T>C
ENST00000682589.1:n.9225T>C
ENST00000682755.1:c.3126T>C	ENSP00000507660.1:p.Thr1042=
ENST00000682989.1:c.*439T>C	ENSP00000507786.1:n.*439T>C
ENST00000683039.1:c.3348T>C	ENSP00000508303.1:p.Thr1116=
ENST00000683235.1:c.*763T>C	ENSP00000507646.1:n.*763T>C
ENST00000683535.1:n.1478T>C
ENST00000684584.1:c.2511T>C	ENSP00000508044.1:p.Thr837=
ENST00000684626.1:n.1594T>C
ENST00000684769.1:c.1538T>C	ENSP00000507691.1:n.1538T>C
ENST00000259008.7:c.3348T>C MANE Select	ENSP00000259008.2:p.Thr1116=
ENST00000259008.6:c.3348T>C	ENSP00000259008.2:p.Thr1116=
NM_032043.2:c.3348T>C , LRG_300t1:c.3348T>C	NP_114432.2:p.Thr1116=
XM_011525332.1:c.3408T>C	XP_011523634.1:p.Thr1136=
XM_011525333.1:c.3408T>C	XP_011523635.1:p.Thr1136=
XM_011525334.1:c.3408T>C	XP_011523636.1:p.Thr1136=
XM_011525335.1:c.3348T>C	XP_011523637.1:p.Thr1116=
XM_011525336.1:c.3288T>C	XP_011523638.1:p.Thr1096=
XM_011525337.1:c.3207T>C	XP_011523639.1:p.Thr1069=
XM_011525338.1:c.2925T>C	XP_011523640.1:p.Thr975=
XM_011525332.3:c.3408T>C	XP_011523634.1:p.Thr1136=
XM_011525333.3:c.3408T>C	XP_011523635.1:p.Thr1136=
XM_011525334.2:c.3408T>C	XP_011523636.1:p.Thr1136=
XM_011525335.3:c.3348T>C	XP_011523637.1:p.Thr1116=
XM_011525336.2:c.3288T>C	XP_011523638.1:p.Thr1096=
XM_011525337.2:c.3207T>C	XP_011523639.1:p.Thr1069=
XM_011525338.2:c.2925T>C	XP_011523640.1:p.Thr975=
XM_017025200.1:c.2865T>C	XP_016880689.1:p.Thr955=
XM_017025201.1:c.2865T>C	XP_016880690.1:p.Thr955=
XM_017025202.1:c.1494T>C	XP_016880691.1:p.Thr498=
XM_017025203.1:c.1494T>C	XP_016880692.1:p.Thr498=
NM_032043.3:c.3348T>C MANE Select	NP_114432.2:p.Thr1116=