Canonical Allele Identifier: CA400482520

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 634793
• ClinVar RCV Id: RCV000785562
• dbSNP Id: rs1567779336
• MyVariant Identifiers: chr17:g.59820374C>A (hg19) ; chr17:g.61743013C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743013C>A , CM000679.2:g.61743013C>A	GRCh38
NC_000017.10:g.59820374C>A , CM000679.1:g.59820374C>A	GRCh37
NC_000017.9:g.57175156C>A	NCBI36
NG_007409.2:g.125547G>T , LRG_300:g.125547G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2379G>T	ENSP00000463272.2:p.Gln793His
ENST00000682066.1:c.2509G>T	ENSP00000507191.1:n.2509G>T
ENST00000682073.1:n.1119G>T
ENST00000682433.1:n.1458G>T
ENST00000682453.1:c.2379G>T	ENSP00000506943.1:p.Gln793His
ENST00000682477.1:c.*1805G>T	ENSP00000507075.1:n.*1805G>T
ENST00000682589.1:n.8256G>T
ENST00000682755.1:c.2157G>T	ENSP00000507660.1:p.Gln719His
ENST00000682989.1:c.2379G>T	ENSP00000507786.1:p.Gln793His
ENST00000683039.1:c.2379G>T	ENSP00000508303.1:p.Gln793His
ENST00000683235.1:c.2379G>T	ENSP00000507646.1:p.Gln793His
ENST00000683381.1:c.2439G>T	ENSP00000508184.1:p.Gln813His
ENST00000683535.1:n.509G>T
ENST00000684471.1:n.792G>T
ENST00000684584.1:c.1872G>T	ENSP00000508044.1:p.Gln624His
ENST00000684769.1:c.444G>T	ENSP00000507691.1:p.Gln148His
ENST00000259008.7:c.2379G>T MANE Select	ENSP00000259008.2:p.Gln793His
ENST00000259008.6:c.2379G>T	ENSP00000259008.2:p.Gln793His
ENST00000577598.5:c.2379G>T	ENSP00000464654.1:p.Gln793His
ENST00000584322.1:c.362G>T
NM_032043.2:c.2379G>T , LRG_300t1:c.2379G>T	NP_114432.2:p.Gln793His
XM_011525332.1:c.2439G>T	XP_011523634.1:p.Gln813His
XM_011525333.1:c.2439G>T	XP_011523635.1:p.Gln813His
XM_011525334.1:c.2439G>T	XP_011523636.1:p.Gln813His
XM_011525335.1:c.2379G>T	XP_011523637.1:p.Gln793His
XM_011525336.1:c.2319G>T	XP_011523638.1:p.Gln773His
XM_011525337.1:c.2238G>T	XP_011523639.1:p.Gln746His
XM_011525338.1:c.1956G>T	XP_011523640.1:p.Gln652His
XM_011525339.1:c.2439G>T	XP_011523641.1:p.Gln813His
XM_011525340.1:c.2439G>T	XP_011523642.1:p.Gln813His
XR_934894.1:n.524-1168C>A
XM_011525332.3:c.2439G>T	XP_011523634.1:p.Gln813His
XM_011525333.3:c.2439G>T	XP_011523635.1:p.Gln813His
XM_011525334.2:c.2439G>T	XP_011523636.1:p.Gln813His
XM_011525335.3:c.2379G>T	XP_011523637.1:p.Gln793His
XM_011525336.2:c.2319G>T	XP_011523638.1:p.Gln773His
XM_011525337.2:c.2238G>T	XP_011523639.1:p.Gln746His
XM_011525338.2:c.1956G>T	XP_011523640.1:p.Gln652His
XM_011525339.3:c.2439G>T	XP_011523641.1:p.Gln813His
XM_011525340.3:c.2439G>T	XP_011523642.1:p.Gln813His
XM_017025200.1:c.1896G>T	XP_016880689.1:p.Gln632His
XM_017025201.1:c.1896G>T	XP_016880690.1:p.Gln632His
XM_017025202.1:c.525G>T	XP_016880691.1:p.Gln175His
XM_017025203.1:c.525G>T	XP_016880692.1:p.Gln175His
NM_032043.3:c.2379G>T MANE Select	NP_114432.2:p.Gln793His