Canonical Allele Identifier: CA501335345

Gene: BRIP1

Linked Data

• dbSNP Id: rs2061318471
• MyVariant Identifiers: chr17:g.59761263G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683902G>C , CM000679.2:g.61683902G>C	GRCh38
NC_000017.10:g.59761263G>C , CM000679.1:g.59761263G>C	GRCh37
NC_000017.9:g.57116045G>C	NCBI36
NG_007409.2:g.184658C>G , LRG_300:g.184658C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1884C>G
ENST00000682453.1:c.3144C>G	ENSP00000506943.1:p.Pro1048=
ENST00000682477.1:c.*2570C>G	ENSP00000507075.1:n.*2570C>G
ENST00000682589.1:n.9021C>G
ENST00000682755.1:c.2922C>G	ENSP00000507660.1:p.Pro974=
ENST00000682989.1:c.*235C>G	ENSP00000507786.1:n.*235C>G
ENST00000683039.1:c.3144C>G	ENSP00000508303.1:p.Pro1048=
ENST00000683235.1:c.*559C>G	ENSP00000507646.1:n.*559C>G
ENST00000683535.1:n.1274C>G
ENST00000684584.1:c.2307C>G	ENSP00000508044.1:p.Pro769=
ENST00000684626.1:n.1390C>G
ENST00000684769.1:c.1334C>G	ENSP00000507691.1:n.1334C>G
ENST00000259008.7:c.3144C>G MANE Select	ENSP00000259008.2:p.Pro1048=
ENST00000259008.6:c.3144C>G	ENSP00000259008.2:p.Pro1048=
NM_032043.2:c.3144C>G , LRG_300t1:c.3144C>G	NP_114432.2:p.Pro1048=
XM_011525332.1:c.3204C>G	XP_011523634.1:p.Pro1068=
XM_011525333.1:c.3204C>G	XP_011523635.1:p.Pro1068=
XM_011525334.1:c.3204C>G	XP_011523636.1:p.Pro1068=
XM_011525335.1:c.3144C>G	XP_011523637.1:p.Pro1048=
XM_011525336.1:c.3084C>G	XP_011523638.1:p.Pro1028=
XM_011525337.1:c.3003C>G	XP_011523639.1:p.Pro1001=
XM_011525338.1:c.2721C>G	XP_011523640.1:p.Pro907=
XM_011525332.3:c.3204C>G	XP_011523634.1:p.Pro1068=
XM_011525333.3:c.3204C>G	XP_011523635.1:p.Pro1068=
XM_011525334.2:c.3204C>G	XP_011523636.1:p.Pro1068=
XM_011525335.3:c.3144C>G	XP_011523637.1:p.Pro1048=
XM_011525336.2:c.3084C>G	XP_011523638.1:p.Pro1028=
XM_011525337.2:c.3003C>G	XP_011523639.1:p.Pro1001=
XM_011525338.2:c.2721C>G	XP_011523640.1:p.Pro907=
XM_017025200.1:c.2661C>G	XP_016880689.1:p.Pro887=
XM_017025201.1:c.2661C>G	XP_016880690.1:p.Pro887=
XM_017025202.1:c.1290C>G	XP_016880691.1:p.Pro430=
XM_017025203.1:c.1290C>G	XP_016880692.1:p.Pro430=
NM_032043.3:c.3144C>G MANE Select	NP_114432.2:p.Pro1048=