Canonical Allele Identifier: CA400478705

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144075669
• MyVariant Identifiers: chr17:g.59760961A>T (hg19) ; chr17:g.61683600A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683600A>T , CM000679.2:g.61683600A>T	GRCh38
NC_000017.10:g.59760961A>T , CM000679.1:g.59760961A>T	GRCh37
NC_000017.9:g.57115743A>T	NCBI36
NG_007409.2:g.184960T>A , LRG_300:g.184960T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2186T>A
ENST00000682453.1:c.3446T>A	ENSP00000506943.1:p.Leu1149Gln
ENST00000682477.1:c.*2872T>A	ENSP00000507075.1:n.*2872T>A
ENST00000682589.1:n.9323T>A
ENST00000682755.1:c.3224T>A	ENSP00000507660.1:p.Leu1075Gln
ENST00000682989.1:c.*537T>A	ENSP00000507786.1:n.*537T>A
ENST00000683039.1:c.3446T>A	ENSP00000508303.1:p.Leu1149Gln
ENST00000683235.1:c.*861T>A	ENSP00000507646.1:n.*861T>A
ENST00000683535.1:n.1576T>A
ENST00000684584.1:c.2609T>A	ENSP00000508044.1:p.Leu870Gln
ENST00000684626.1:n.1692T>A
ENST00000684769.1:c.1636T>A	ENSP00000507691.1:n.1636T>A
ENST00000259008.7:c.3446T>A MANE Select	ENSP00000259008.2:p.Leu1149Gln
ENST00000259008.6:c.3446T>A	ENSP00000259008.2:p.Leu1149Gln
NM_032043.2:c.3446T>A , LRG_300t1:c.3446T>A	NP_114432.2:p.Leu1149Gln
XM_011525332.1:c.3506T>A	XP_011523634.1:p.Leu1169Gln
XM_011525333.1:c.3506T>A	XP_011523635.1:p.Leu1169Gln
XM_011525334.1:c.3506T>A	XP_011523636.1:p.Leu1169Gln
XM_011525335.1:c.3446T>A	XP_011523637.1:p.Leu1149Gln
XM_011525336.1:c.3386T>A	XP_011523638.1:p.Leu1129Gln
XM_011525337.1:c.3305T>A	XP_011523639.1:p.Leu1102Gln
XM_011525338.1:c.3023T>A	XP_011523640.1:p.Leu1008Gln
XM_011525332.3:c.3506T>A	XP_011523634.1:p.Leu1169Gln
XM_011525333.3:c.3506T>A	XP_011523635.1:p.Leu1169Gln
XM_011525334.2:c.3506T>A	XP_011523636.1:p.Leu1169Gln
XM_011525335.3:c.3446T>A	XP_011523637.1:p.Leu1149Gln
XM_011525336.2:c.3386T>A	XP_011523638.1:p.Leu1129Gln
XM_011525337.2:c.3305T>A	XP_011523639.1:p.Leu1102Gln
XM_011525338.2:c.3023T>A	XP_011523640.1:p.Leu1008Gln
XM_017025200.1:c.2963T>A	XP_016880689.1:p.Leu988Gln
XM_017025201.1:c.2963T>A	XP_016880690.1:p.Leu988Gln
XM_017025202.1:c.1592T>A	XP_016880691.1:p.Leu531Gln
XM_017025203.1:c.1592T>A	XP_016880692.1:p.Leu531Gln
NM_032043.3:c.3446T>A MANE Select	NP_114432.2:p.Leu1149Gln