Canonical Allele Identifier: CA292268876

Gene: BRIP1

Linked Data

• dbSNP Id: rs771441794
• gnomAD v4: 17-61742971-A-G
• MyVariant Identifiers: chr17:g.59820332A>G (hg19) ; chr17:g.61742971A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61742971A>G , CM000679.2:g.61742971A>G	GRCh38
NC_000017.10:g.59820332A>G , CM000679.1:g.59820332A>G	GRCh37
NC_000017.9:g.57175114A>G	NCBI36
NG_007409.2:g.125589T>C , LRG_300:g.125589T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000584322.2:c.2379+42T>C	ENSP00000463272.2:n.2379+42T>C
ENST00000682066.1:c.2509+42T>C	ENSP00000507191.1:n.2509+42T>C
ENST00000682073.1:n.1119+42T>C
ENST00000682433.1:n.1458+42T>C
ENST00000682453.1:c.2379+42T>C	ENSP00000506943.1:n.2379+42T>C
ENST00000682477.1:c.*1805+42T>C	ENSP00000507075.1:n.*1805+42T>C
ENST00000682589.1:n.8256+42T>C
ENST00000682755.1:c.2157+42T>C	ENSP00000507660.1:n.2157+42T>C
ENST00000682989.1:c.2379+42T>C	ENSP00000507786.1:n.2379+42T>C
ENST00000683039.1:c.2379+42T>C	ENSP00000508303.1:n.2379+42T>C
ENST00000683235.1:c.2379+42T>C	ENSP00000507646.1:n.2379+42T>C
ENST00000683381.1:c.2439+42T>C	ENSP00000508184.1:n.2439+42T>C
ENST00000683535.1:n.509+42T>C
ENST00000684471.1:n.792+42T>C
ENST00000684584.1:c.1872+42T>C	ENSP00000508044.1:n.1872+42T>C
ENST00000684769.1:c.444+42T>C	ENSP00000507691.1:n.444+42T>C
ENST00000259008.7:c.2379+42T>C MANE Select	ENSP00000259008.2:n.2379+42T>C
ENST00000259008.6:c.2379+42T>C	ENSP00000259008.2:n.2379+42T>C
ENST00000577598.5:c.2379+42T>C	ENSP00000464654.1:n.2379+42T>C
ENST00000584322.1:c.362+42T>C
NM_032043.2:c.2379+42T>C , LRG_300t1:c.2379+42T>C	NP_114432.2:n.2379+42T>C
XM_011525332.1:c.2439+42T>C	XP_011523634.1:n.2439+42T>C
XM_011525333.1:c.2439+42T>C	XP_011523635.1:n.2439+42T>C
XM_011525334.1:c.2439+42T>C	XP_011523636.1:n.2439+42T>C
XM_011525335.1:c.2379+42T>C	XP_011523637.1:n.2379+42T>C
XM_011525336.1:c.2319+42T>C	XP_011523638.1:n.2319+42T>C
XM_011525337.1:c.2238+42T>C	XP_011523639.1:n.2238+42T>C
XM_011525338.1:c.1956+42T>C	XP_011523640.1:n.1956+42T>C
XM_011525339.1:c.2439+42T>C	XP_011523641.1:n.2439+42T>C
XM_011525340.1:c.2439+42T>C	XP_011523642.1:n.2439+42T>C
XR_934894.1:n.524-1210A>G
XM_011525332.3:c.2439+42T>C	XP_011523634.1:n.2439+42T>C
XM_011525333.3:c.2439+42T>C	XP_011523635.1:n.2439+42T>C
XM_011525334.2:c.2439+42T>C	XP_011523636.1:n.2439+42T>C
XM_011525335.3:c.2379+42T>C	XP_011523637.1:n.2379+42T>C
XM_011525336.2:c.2319+42T>C	XP_011523638.1:n.2319+42T>C
XM_011525337.2:c.2238+42T>C	XP_011523639.1:n.2238+42T>C
XM_011525338.2:c.1956+42T>C	XP_011523640.1:n.1956+42T>C
XM_011525339.3:c.2439+42T>C	XP_011523641.1:n.2439+42T>C
XM_011525340.3:c.2439+42T>C	XP_011523642.1:n.2439+42T>C
XM_017025200.1:c.1896+42T>C	XP_016880689.1:n.1896+42T>C
XM_017025201.1:c.1896+42T>C	XP_016880690.1:n.1896+42T>C
XM_017025202.1:c.525+42T>C	XP_016880691.1:n.525+42T>C
XM_017025203.1:c.525+42T>C	XP_016880692.1:n.525+42T>C
NM_032043.3:c.2379+42T>C MANE Select	NP_114432.2:n.2379+42T>C