Canonical Allele Identifier: CA501335257

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59760882A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683521A>C , CM000679.2:g.61683521A>C	GRCh38
NC_000017.10:g.59760882A>C , CM000679.1:g.59760882A>C	GRCh37
NC_000017.9:g.57115664A>C	NCBI36
NG_007409.2:g.185039T>G , LRG_300:g.185039T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2265T>G
ENST00000682453.1:c.3525T>G	ENSP00000506943.1:p.Thr1175=
ENST00000682477.1:c.*2951T>G	ENSP00000507075.1:n.*2951T>G
ENST00000682589.1:n.9402T>G
ENST00000682755.1:c.3303T>G	ENSP00000507660.1:p.Thr1101=
ENST00000682989.1:c.*616T>G	ENSP00000507786.1:n.*616T>G
ENST00000683039.1:c.3525T>G	ENSP00000508303.1:p.Thr1175=
ENST00000683235.1:c.*940T>G	ENSP00000507646.1:n.*940T>G
ENST00000683535.1:n.1655T>G
ENST00000684584.1:c.2688T>G	ENSP00000508044.1:p.Thr896=
ENST00000684626.1:n.1771T>G
ENST00000684769.1:c.1715T>G	ENSP00000507691.1:n.1715T>G
ENST00000259008.7:c.3525T>G MANE Select	ENSP00000259008.2:p.Thr1175=
ENST00000259008.6:c.3525T>G	ENSP00000259008.2:p.Thr1175=
NM_032043.2:c.3525T>G , LRG_300t1:c.3525T>G	NP_114432.2:p.Thr1175=
XM_011525332.1:c.3585T>G	XP_011523634.1:p.Thr1195=
XM_011525333.1:c.3585T>G	XP_011523635.1:p.Thr1195=
XM_011525334.1:c.3585T>G	XP_011523636.1:p.Thr1195=
XM_011525335.1:c.3525T>G	XP_011523637.1:p.Thr1175=
XM_011525336.1:c.3465T>G	XP_011523638.1:p.Thr1155=
XM_011525337.1:c.3384T>G	XP_011523639.1:p.Thr1128=
XM_011525338.1:c.3102T>G	XP_011523640.1:p.Thr1034=
XM_011525332.3:c.3585T>G	XP_011523634.1:p.Thr1195=
XM_011525333.3:c.3585T>G	XP_011523635.1:p.Thr1195=
XM_011525334.2:c.3585T>G	XP_011523636.1:p.Thr1195=
XM_011525335.3:c.3525T>G	XP_011523637.1:p.Thr1175=
XM_011525336.2:c.3465T>G	XP_011523638.1:p.Thr1155=
XM_011525337.2:c.3384T>G	XP_011523639.1:p.Thr1128=
XM_011525338.2:c.3102T>G	XP_011523640.1:p.Thr1034=
XM_017025200.1:c.3042T>G	XP_016880689.1:p.Thr1014=
XM_017025201.1:c.3042T>G	XP_016880690.1:p.Thr1014=
XM_017025202.1:c.1671T>G	XP_016880691.1:p.Thr557=
XM_017025203.1:c.1671T>G	XP_016880692.1:p.Thr557=
NM_032043.3:c.3525T>G MANE Select	NP_114432.2:p.Thr1175=