Canonical Allele Identifier: CA197042

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 187218
• ClinVar RCV Id: RCV000166925 ; RCV000506334 ; RCV000472114 ; RCV003474883
• dbSNP Id: rs786203561
• gnomAD v4: 17-61743137-T-C
• MyVariant Identifiers: chr17:g.59820498T>C (hg19) ; chr17:g.61743137T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743137T>C , CM000679.2:g.61743137T>C	GRCh38
NC_000017.10:g.59820498T>C , CM000679.1:g.59820498T>C	GRCh37
NC_000017.9:g.57175280T>C	NCBI36
NG_007409.2:g.125423A>G , LRG_300:g.125423A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2258-3A>G	ENSP00000463272.2:n.2258-3A>G
ENST00000682066.1:c.2388-3A>G	ENSP00000507191.1:n.2388-3A>G
ENST00000682073.1:n.998-3A>G
ENST00000682433.1:n.1337-3A>G
ENST00000682453.1:c.2258-3A>G	ENSP00000506943.1:n.2258-3A>G
ENST00000682477.1:c.*1684-3A>G	ENSP00000507075.1:n.*1684-3A>G
ENST00000682589.1:n.8135-3A>G
ENST00000682755.1:c.2036-3A>G	ENSP00000507660.1:n.2036-3A>G
ENST00000682989.1:c.2258-3A>G	ENSP00000507786.1:n.2258-3A>G
ENST00000683039.1:c.2258-3A>G	ENSP00000508303.1:n.2258-3A>G
ENST00000683235.1:c.2258-3A>G	ENSP00000507646.1:n.2258-3A>G
ENST00000683381.1:c.2318-3A>G	ENSP00000508184.1:n.2318-3A>G
ENST00000683535.1:n.388-3A>G
ENST00000684471.1:n.671-3A>G
ENST00000684584.1:c.1751-3A>G	ENSP00000508044.1:n.1751-3A>G
ENST00000684769.1:c.323-3A>G	ENSP00000507691.1:n.323-3A>G
ENST00000259008.7:c.2258-3A>G MANE Select	ENSP00000259008.2:n.2258-3A>G
ENST00000259008.6:c.2258-3A>G	ENSP00000259008.2:n.2258-3A>G
ENST00000577598.5:c.2258-3A>G	ENSP00000464654.1:n.2258-3A>G
ENST00000584322.1:c.241-3A>G
NM_032043.2:c.2258-3A>G , LRG_300t1:c.2258-3A>G	NP_114432.2:n.2258-3A>G
XM_011525332.1:c.2318-3A>G	XP_011523634.1:n.2318-3A>G
XM_011525333.1:c.2318-3A>G	XP_011523635.1:n.2318-3A>G
XM_011525334.1:c.2318-3A>G	XP_011523636.1:n.2318-3A>G
XM_011525335.1:c.2258-3A>G	XP_011523637.1:n.2258-3A>G
XM_011525336.1:c.2198-3A>G	XP_011523638.1:n.2198-3A>G
XM_011525337.1:c.2117-3A>G	XP_011523639.1:n.2117-3A>G
XM_011525338.1:c.1835-3A>G	XP_011523640.1:n.1835-3A>G
XM_011525339.1:c.2318-3A>G	XP_011523641.1:n.2318-3A>G
XM_011525340.1:c.2318-3A>G	XP_011523642.1:n.2318-3A>G
XR_934894.1:n.524-1044T>C
XM_011525332.3:c.2318-3A>G	XP_011523634.1:n.2318-3A>G
XM_011525333.3:c.2318-3A>G	XP_011523635.1:n.2318-3A>G
XM_011525334.2:c.2318-3A>G	XP_011523636.1:n.2318-3A>G
XM_011525335.3:c.2258-3A>G	XP_011523637.1:n.2258-3A>G
XM_011525336.2:c.2198-3A>G	XP_011523638.1:n.2198-3A>G
XM_011525337.2:c.2117-3A>G	XP_011523639.1:n.2117-3A>G
XM_011525338.2:c.1835-3A>G	XP_011523640.1:n.1835-3A>G
XM_011525339.3:c.2318-3A>G	XP_011523641.1:n.2318-3A>G
XM_011525340.3:c.2318-3A>G	XP_011523642.1:n.2318-3A>G
XM_017025200.1:c.1775-3A>G	XP_016880689.1:n.1775-3A>G
XM_017025201.1:c.1775-3A>G	XP_016880690.1:n.1775-3A>G
XM_017025202.1:c.404-3A>G	XP_016880691.1:n.404-3A>G
XM_017025203.1:c.404-3A>G	XP_016880692.1:n.404-3A>G
NM_032043.3:c.2258-3A>G MANE Select	NP_114432.2:n.2258-3A>G