Canonical Allele Identifier: CA400479075

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 653008
• ClinVar RCV Id: RCV000808691 ; RCV003153849 ; RCV001525074
• dbSNP Id: rs876660638
• MyVariant Identifiers: chr17:g.59761130G>C (hg19) ; chr17:g.61683769G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683769G>C , CM000679.2:g.61683769G>C	GRCh38
NC_000017.10:g.59761130G>C , CM000679.1:g.59761130G>C	GRCh37
NC_000017.9:g.57115912G>C	NCBI36
NG_007409.2:g.184791C>G , LRG_300:g.184791C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2017C>G
ENST00000682453.1:c.3277C>G	ENSP00000506943.1:p.Leu1093Val
ENST00000682477.1:c.*2703C>G	ENSP00000507075.1:n.*2703C>G
ENST00000682589.1:n.9154C>G
ENST00000682755.1:c.3055C>G	ENSP00000507660.1:p.Leu1019Val
ENST00000682989.1:c.*368C>G	ENSP00000507786.1:n.*368C>G
ENST00000683039.1:c.3277C>G	ENSP00000508303.1:p.Leu1093Val
ENST00000683235.1:c.*692C>G	ENSP00000507646.1:n.*692C>G
ENST00000683535.1:n.1407C>G
ENST00000684584.1:c.2440C>G	ENSP00000508044.1:p.Leu814Val
ENST00000684626.1:n.1523C>G
ENST00000684769.1:c.1467C>G	ENSP00000507691.1:n.1467C>G
ENST00000259008.7:c.3277C>G MANE Select	ENSP00000259008.2:p.Leu1093Val
ENST00000259008.6:c.3277C>G	ENSP00000259008.2:p.Leu1093Val
NM_032043.2:c.3277C>G , LRG_300t1:c.3277C>G	NP_114432.2:p.Leu1093Val
XM_011525332.1:c.3337C>G	XP_011523634.1:p.Leu1113Val
XM_011525333.1:c.3337C>G	XP_011523635.1:p.Leu1113Val
XM_011525334.1:c.3337C>G	XP_011523636.1:p.Leu1113Val
XM_011525335.1:c.3277C>G	XP_011523637.1:p.Leu1093Val
XM_011525336.1:c.3217C>G	XP_011523638.1:p.Leu1073Val
XM_011525337.1:c.3136C>G	XP_011523639.1:p.Leu1046Val
XM_011525338.1:c.2854C>G	XP_011523640.1:p.Leu952Val
XM_011525332.3:c.3337C>G	XP_011523634.1:p.Leu1113Val
XM_011525333.3:c.3337C>G	XP_011523635.1:p.Leu1113Val
XM_011525334.2:c.3337C>G	XP_011523636.1:p.Leu1113Val
XM_011525335.3:c.3277C>G	XP_011523637.1:p.Leu1093Val
XM_011525336.2:c.3217C>G	XP_011523638.1:p.Leu1073Val
XM_011525337.2:c.3136C>G	XP_011523639.1:p.Leu1046Val
XM_011525338.2:c.2854C>G	XP_011523640.1:p.Leu952Val
XM_017025200.1:c.2794C>G	XP_016880689.1:p.Leu932Val
XM_017025201.1:c.2794C>G	XP_016880690.1:p.Leu932Val
XM_017025202.1:c.1423C>G	XP_016880691.1:p.Leu475Val
XM_017025203.1:c.1423C>G	XP_016880692.1:p.Leu475Val
NM_032043.3:c.3277C>G MANE Select	NP_114432.2:p.Leu1093Val