Canonical Allele Identifier: CA2639155096

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144673969
• gnomAD v4: 17-61742973-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61742973G>T , CM000679.2:g.61742973G>T	GRCh38
NC_000017.10:g.59820334G>T , CM000679.1:g.59820334G>T	GRCh37
NC_000017.9:g.57175116G>T	NCBI36
NG_007409.2:g.125587C>A , LRG_300:g.125587C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000584322.2:c.2379+40C>A	ENSP00000463272.2:n.2379+40C>A
ENST00000682066.1:c.2509+40C>A	ENSP00000507191.1:n.2509+40C>A
ENST00000682073.1:n.1119+40C>A
ENST00000682433.1:n.1458+40C>A
ENST00000682453.1:c.2379+40C>A	ENSP00000506943.1:n.2379+40C>A
ENST00000682477.1:c.*1805+40C>A	ENSP00000507075.1:n.*1805+40C>A
ENST00000682589.1:n.8256+40C>A
ENST00000682755.1:c.2157+40C>A	ENSP00000507660.1:n.2157+40C>A
ENST00000682989.1:c.2379+40C>A	ENSP00000507786.1:n.2379+40C>A
ENST00000683039.1:c.2379+40C>A	ENSP00000508303.1:n.2379+40C>A
ENST00000683235.1:c.2379+40C>A	ENSP00000507646.1:n.2379+40C>A
ENST00000683381.1:c.2439+40C>A	ENSP00000508184.1:n.2439+40C>A
ENST00000683535.1:n.509+40C>A
ENST00000684471.1:n.792+40C>A
ENST00000684584.1:c.1872+40C>A	ENSP00000508044.1:n.1872+40C>A
ENST00000684769.1:c.444+40C>A	ENSP00000507691.1:n.444+40C>A
ENST00000259008.7:c.2379+40C>A MANE Select	ENSP00000259008.2:n.2379+40C>A
ENST00000259008.6:c.2379+40C>A	ENSP00000259008.2:n.2379+40C>A
ENST00000577598.5:c.2379+40C>A	ENSP00000464654.1:n.2379+40C>A
ENST00000584322.1:c.362+40C>A
NM_032043.2:c.2379+40C>A , LRG_300t1:c.2379+40C>A	NP_114432.2:n.2379+40C>A
XM_011525332.1:c.2439+40C>A	XP_011523634.1:n.2439+40C>A
XM_011525333.1:c.2439+40C>A	XP_011523635.1:n.2439+40C>A
XM_011525334.1:c.2439+40C>A	XP_011523636.1:n.2439+40C>A
XM_011525335.1:c.2379+40C>A	XP_011523637.1:n.2379+40C>A
XM_011525336.1:c.2319+40C>A	XP_011523638.1:n.2319+40C>A
XM_011525337.1:c.2238+40C>A	XP_011523639.1:n.2238+40C>A
XM_011525338.1:c.1956+40C>A	XP_011523640.1:n.1956+40C>A
XM_011525339.1:c.2439+40C>A	XP_011523641.1:n.2439+40C>A
XM_011525340.1:c.2439+40C>A	XP_011523642.1:n.2439+40C>A
XR_934894.1:n.524-1208G>T
XM_011525332.3:c.2439+40C>A	XP_011523634.1:n.2439+40C>A
XM_011525333.3:c.2439+40C>A	XP_011523635.1:n.2439+40C>A
XM_011525334.2:c.2439+40C>A	XP_011523636.1:n.2439+40C>A
XM_011525335.3:c.2379+40C>A	XP_011523637.1:n.2379+40C>A
XM_011525336.2:c.2319+40C>A	XP_011523638.1:n.2319+40C>A
XM_011525337.2:c.2238+40C>A	XP_011523639.1:n.2238+40C>A
XM_011525338.2:c.1956+40C>A	XP_011523640.1:n.1956+40C>A
XM_011525339.3:c.2439+40C>A	XP_011523641.1:n.2439+40C>A
XM_011525340.3:c.2439+40C>A	XP_011523642.1:n.2439+40C>A
XM_017025200.1:c.1896+40C>A	XP_016880689.1:n.1896+40C>A
XM_017025201.1:c.1896+40C>A	XP_016880690.1:n.1896+40C>A
XM_017025202.1:c.525+40C>A	XP_016880691.1:n.525+40C>A
XM_017025203.1:c.525+40C>A	XP_016880692.1:n.525+40C>A
NM_032043.3:c.2379+40C>A MANE Select	NP_114432.2:n.2379+40C>A