Canonical Allele Identifier: CA400482534

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59820381T>G (hg19) ; chr17:g.61743020T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743020T>G , CM000679.2:g.61743020T>G	GRCh38
NC_000017.10:g.59820381T>G , CM000679.1:g.59820381T>G	GRCh37
NC_000017.9:g.57175163T>G	NCBI36
NG_007409.2:g.125540A>C , LRG_300:g.125540A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2372A>C	ENSP00000463272.2:p.Asp791Ala
ENST00000682066.1:c.2502A>C	ENSP00000507191.1:n.2502A>C
ENST00000682073.1:n.1112A>C
ENST00000682433.1:n.1451A>C
ENST00000682453.1:c.2372A>C	ENSP00000506943.1:p.Asp791Ala
ENST00000682477.1:c.*1798A>C	ENSP00000507075.1:n.*1798A>C
ENST00000682589.1:n.8249A>C
ENST00000682755.1:c.2150A>C	ENSP00000507660.1:p.Asp717Ala
ENST00000682989.1:c.2372A>C	ENSP00000507786.1:p.Asp791Ala
ENST00000683039.1:c.2372A>C	ENSP00000508303.1:p.Asp791Ala
ENST00000683235.1:c.2372A>C	ENSP00000507646.1:p.Asp791Ala
ENST00000683381.1:c.2432A>C	ENSP00000508184.1:p.Asp811Ala
ENST00000683535.1:n.502A>C
ENST00000684471.1:n.785A>C
ENST00000684584.1:c.1865A>C	ENSP00000508044.1:p.Asp622Ala
ENST00000684769.1:c.437A>C	ENSP00000507691.1:p.Asp146Ala
ENST00000259008.7:c.2372A>C MANE Select	ENSP00000259008.2:p.Asp791Ala
ENST00000259008.6:c.2372A>C	ENSP00000259008.2:p.Asp791Ala
ENST00000577598.5:c.2372A>C	ENSP00000464654.1:p.Asp791Ala
ENST00000584322.1:c.355A>C
NM_032043.2:c.2372A>C , LRG_300t1:c.2372A>C	NP_114432.2:p.Asp791Ala
XM_011525332.1:c.2432A>C	XP_011523634.1:p.Asp811Ala
XM_011525333.1:c.2432A>C	XP_011523635.1:p.Asp811Ala
XM_011525334.1:c.2432A>C	XP_011523636.1:p.Asp811Ala
XM_011525335.1:c.2372A>C	XP_011523637.1:p.Asp791Ala
XM_011525336.1:c.2312A>C	XP_011523638.1:p.Asp771Ala
XM_011525337.1:c.2231A>C	XP_011523639.1:p.Asp744Ala
XM_011525338.1:c.1949A>C	XP_011523640.1:p.Asp650Ala
XM_011525339.1:c.2432A>C	XP_011523641.1:p.Asp811Ala
XM_011525340.1:c.2432A>C	XP_011523642.1:p.Asp811Ala
XR_934894.1:n.524-1161T>G
XM_011525332.3:c.2432A>C	XP_011523634.1:p.Asp811Ala
XM_011525333.3:c.2432A>C	XP_011523635.1:p.Asp811Ala
XM_011525334.2:c.2432A>C	XP_011523636.1:p.Asp811Ala
XM_011525335.3:c.2372A>C	XP_011523637.1:p.Asp791Ala
XM_011525336.2:c.2312A>C	XP_011523638.1:p.Asp771Ala
XM_011525337.2:c.2231A>C	XP_011523639.1:p.Asp744Ala
XM_011525338.2:c.1949A>C	XP_011523640.1:p.Asp650Ala
XM_011525339.3:c.2432A>C	XP_011523641.1:p.Asp811Ala
XM_011525340.3:c.2432A>C	XP_011523642.1:p.Asp811Ala
XM_017025200.1:c.1889A>C	XP_016880689.1:p.Asp630Ala
XM_017025201.1:c.1889A>C	XP_016880690.1:p.Asp630Ala
XM_017025202.1:c.518A>C	XP_016880691.1:p.Asp173Ala
XM_017025203.1:c.518A>C	XP_016880692.1:p.Asp173Ala
NM_032043.3:c.2372A>C MANE Select	NP_114432.2:p.Asp791Ala