Canonical Allele Identifier: CA400478560

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144074094
• MyVariant Identifiers: chr17:g.59760917A>G (hg19) ; chr17:g.61683556A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683556A>G , CM000679.2:g.61683556A>G	GRCh38
NC_000017.10:g.59760917A>G , CM000679.1:g.59760917A>G	GRCh37
NC_000017.9:g.57115699A>G	NCBI36
NG_007409.2:g.185004T>C , LRG_300:g.185004T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2230T>C
ENST00000682453.1:c.3490T>C	ENSP00000506943.1:p.Cys1164Arg
ENST00000682477.1:c.*2916T>C	ENSP00000507075.1:n.*2916T>C
ENST00000682589.1:n.9367T>C
ENST00000682755.1:c.3268T>C	ENSP00000507660.1:p.Cys1090Arg
ENST00000682989.1:c.*581T>C	ENSP00000507786.1:n.*581T>C
ENST00000683039.1:c.3490T>C	ENSP00000508303.1:p.Cys1164Arg
ENST00000683235.1:c.*905T>C	ENSP00000507646.1:n.*905T>C
ENST00000683535.1:n.1620T>C
ENST00000684584.1:c.2653T>C	ENSP00000508044.1:p.Cys885Arg
ENST00000684626.1:n.1736T>C
ENST00000684769.1:c.1680T>C	ENSP00000507691.1:n.1680T>C
ENST00000259008.7:c.3490T>C MANE Select	ENSP00000259008.2:p.Cys1164Arg
ENST00000259008.6:c.3490T>C	ENSP00000259008.2:p.Cys1164Arg
NM_032043.2:c.3490T>C , LRG_300t1:c.3490T>C	NP_114432.2:p.Cys1164Arg
XM_011525332.1:c.3550T>C	XP_011523634.1:p.Cys1184Arg
XM_011525333.1:c.3550T>C	XP_011523635.1:p.Cys1184Arg
XM_011525334.1:c.3550T>C	XP_011523636.1:p.Cys1184Arg
XM_011525335.1:c.3490T>C	XP_011523637.1:p.Cys1164Arg
XM_011525336.1:c.3430T>C	XP_011523638.1:p.Cys1144Arg
XM_011525337.1:c.3349T>C	XP_011523639.1:p.Cys1117Arg
XM_011525338.1:c.3067T>C	XP_011523640.1:p.Cys1023Arg
XM_011525332.3:c.3550T>C	XP_011523634.1:p.Cys1184Arg
XM_011525333.3:c.3550T>C	XP_011523635.1:p.Cys1184Arg
XM_011525334.2:c.3550T>C	XP_011523636.1:p.Cys1184Arg
XM_011525335.3:c.3490T>C	XP_011523637.1:p.Cys1164Arg
XM_011525336.2:c.3430T>C	XP_011523638.1:p.Cys1144Arg
XM_011525337.2:c.3349T>C	XP_011523639.1:p.Cys1117Arg
XM_011525338.2:c.3067T>C	XP_011523640.1:p.Cys1023Arg
XM_017025200.1:c.3007T>C	XP_016880689.1:p.Cys1003Arg
XM_017025201.1:c.3007T>C	XP_016880690.1:p.Cys1003Arg
XM_017025202.1:c.1636T>C	XP_016880691.1:p.Cys546Arg
XM_017025203.1:c.1636T>C	XP_016880692.1:p.Cys546Arg
NM_032043.3:c.3490T>C MANE Select	NP_114432.2:p.Cys1164Arg