Canonical Allele Identifier: CA400479993

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59761394A>C (hg19) ; chr17:g.61684033A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61684033A>C , CM000679.2:g.61684033A>C	GRCh38
NC_000017.10:g.59761394A>C , CM000679.1:g.59761394A>C	GRCh37
NC_000017.9:g.57116176A>C	NCBI36
NG_007409.2:g.184527T>G , LRG_300:g.184527T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1753T>G
ENST00000682453.1:c.3013T>G	ENSP00000506943.1:p.Phe1005Val
ENST00000682477.1:c.*2439T>G	ENSP00000507075.1:n.*2439T>G
ENST00000682589.1:n.8890T>G
ENST00000682755.1:c.2791T>G	ENSP00000507660.1:p.Phe931Val
ENST00000682989.1:c.*104T>G	ENSP00000507786.1:n.*104T>G
ENST00000683039.1:c.3013T>G	ENSP00000508303.1:p.Phe1005Val
ENST00000683235.1:c.*428T>G	ENSP00000507646.1:n.*428T>G
ENST00000683535.1:n.1143T>G
ENST00000684584.1:c.2176T>G	ENSP00000508044.1:p.Phe726Val
ENST00000684626.1:n.1259T>G
ENST00000684769.1:c.1203T>G	ENSP00000507691.1:n.1203T>G
ENST00000259008.7:c.3013T>G MANE Select	ENSP00000259008.2:p.Phe1005Val
ENST00000259008.6:c.3013T>G	ENSP00000259008.2:p.Phe1005Val
NM_032043.2:c.3013T>G , LRG_300t1:c.3013T>G	NP_114432.2:p.Phe1005Val
XM_011525332.1:c.3073T>G	XP_011523634.1:p.Phe1025Val
XM_011525333.1:c.3073T>G	XP_011523635.1:p.Phe1025Val
XM_011525334.1:c.3073T>G	XP_011523636.1:p.Phe1025Val
XM_011525335.1:c.3013T>G	XP_011523637.1:p.Phe1005Val
XM_011525336.1:c.2953T>G	XP_011523638.1:p.Phe985Val
XM_011525337.1:c.2872T>G	XP_011523639.1:p.Phe958Val
XM_011525338.1:c.2590T>G	XP_011523640.1:p.Phe864Val
XM_011525332.3:c.3073T>G	XP_011523634.1:p.Phe1025Val
XM_011525333.3:c.3073T>G	XP_011523635.1:p.Phe1025Val
XM_011525334.2:c.3073T>G	XP_011523636.1:p.Phe1025Val
XM_011525335.3:c.3013T>G	XP_011523637.1:p.Phe1005Val
XM_011525336.2:c.2953T>G	XP_011523638.1:p.Phe985Val
XM_011525337.2:c.2872T>G	XP_011523639.1:p.Phe958Val
XM_011525338.2:c.2590T>G	XP_011523640.1:p.Phe864Val
XM_017025200.1:c.2530T>G	XP_016880689.1:p.Phe844Val
XM_017025201.1:c.2530T>G	XP_016880690.1:p.Phe844Val
XM_017025202.1:c.1159T>G	XP_016880691.1:p.Phe387Val
XM_017025203.1:c.1159T>G	XP_016880692.1:p.Phe387Val
NM_032043.3:c.3013T>G MANE Select	NP_114432.2:p.Phe1005Val