Canonical Allele Identifier: CA501335324

Gene: BRIP1

Linked Data

• dbSNP Id: rs1555572806
• MyVariant Identifiers: chr17:g.59761233C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683872C>T , CM000679.2:g.61683872C>T	GRCh38
NC_000017.10:g.59761233C>T , CM000679.1:g.59761233C>T	GRCh37
NC_000017.9:g.57116015C>T	NCBI36
NG_007409.2:g.184688G>A , LRG_300:g.184688G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1914G>A
ENST00000682453.1:c.3174G>A	ENSP00000506943.1:p.Leu1058=
ENST00000682477.1:c.*2600G>A	ENSP00000507075.1:n.*2600G>A
ENST00000682589.1:n.9051G>A
ENST00000682755.1:c.2952G>A	ENSP00000507660.1:p.Leu984=
ENST00000682989.1:c.*265G>A	ENSP00000507786.1:n.*265G>A
ENST00000683039.1:c.3174G>A	ENSP00000508303.1:p.Leu1058=
ENST00000683235.1:c.*589G>A	ENSP00000507646.1:n.*589G>A
ENST00000683535.1:n.1304G>A
ENST00000684584.1:c.2337G>A	ENSP00000508044.1:p.Leu779=
ENST00000684626.1:n.1420G>A
ENST00000684769.1:c.1364G>A	ENSP00000507691.1:n.1364G>A
ENST00000259008.7:c.3174G>A MANE Select	ENSP00000259008.2:p.Leu1058=
ENST00000259008.6:c.3174G>A	ENSP00000259008.2:p.Leu1058=
NM_032043.2:c.3174G>A , LRG_300t1:c.3174G>A	NP_114432.2:p.Leu1058=
XM_011525332.1:c.3234G>A	XP_011523634.1:p.Leu1078=
XM_011525333.1:c.3234G>A	XP_011523635.1:p.Leu1078=
XM_011525334.1:c.3234G>A	XP_011523636.1:p.Leu1078=
XM_011525335.1:c.3174G>A	XP_011523637.1:p.Leu1058=
XM_011525336.1:c.3114G>A	XP_011523638.1:p.Leu1038=
XM_011525337.1:c.3033G>A	XP_011523639.1:p.Leu1011=
XM_011525338.1:c.2751G>A	XP_011523640.1:p.Leu917=
XM_011525332.3:c.3234G>A	XP_011523634.1:p.Leu1078=
XM_011525333.3:c.3234G>A	XP_011523635.1:p.Leu1078=
XM_011525334.2:c.3234G>A	XP_011523636.1:p.Leu1078=
XM_011525335.3:c.3174G>A	XP_011523637.1:p.Leu1058=
XM_011525336.2:c.3114G>A	XP_011523638.1:p.Leu1038=
XM_011525337.2:c.3033G>A	XP_011523639.1:p.Leu1011=
XM_011525338.2:c.2751G>A	XP_011523640.1:p.Leu917=
XM_017025200.1:c.2691G>A	XP_016880689.1:p.Leu897=
XM_017025201.1:c.2691G>A	XP_016880690.1:p.Leu897=
XM_017025202.1:c.1320G>A	XP_016880691.1:p.Leu440=
XM_017025203.1:c.1320G>A	XP_016880692.1:p.Leu440=
NM_032043.3:c.3174G>A MANE Select	NP_114432.2:p.Leu1058=