Canonical Allele Identifier: CA16615518

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 414688
• ClinVar RCV Id: RCV000464177 ; RCV000581250
• dbSNP Id: rs1060504334
• gnomAD v4: 17-61847094-T-C
• MyVariant Identifiers: chr17:g.59924455T>C (hg19) ; chr17:g.61847094T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61847094T>C , CM000679.2:g.61847094T>C	GRCh38
NC_000017.10:g.59924455T>C , CM000679.1:g.59924455T>C	GRCh37
NC_000017.9:g.57279237T>C	NCBI36
NG_007409.2:g.21466A>G , LRG_300:g.21466A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000577913.2:c.627+7A>G	ENSP00000462274.2:n.627+7A>G
ENST00000579028.2:c.120+7A>G	ENSP00000463827.2:n.120+7A>G
ENST00000584322.2:c.627+7A>G	ENSP00000463272.2:n.627+7A>G
ENST00000682066.1:c.120+7A>G	ENSP00000507191.1:n.120+7A>G
ENST00000682369.1:c.627+7A>G	ENSP00000507450.1:n.627+7A>G
ENST00000682453.1:c.627+7A>G	ENSP00000506943.1:n.627+7A>G
ENST00000682477.1:c.627+7A>G	ENSP00000507075.1:n.627+7A>G
ENST00000682589.1:n.2368+7A>G
ENST00000682611.1:c.120+7A>G	ENSP00000508326.1:n.120+7A>G
ENST00000682755.1:c.627+7A>G	ENSP00000507660.1:n.627+7A>G
ENST00000682989.1:c.627+7A>G	ENSP00000507786.1:n.627+7A>G
ENST00000683039.1:c.627+7A>G	ENSP00000508303.1:n.627+7A>G
ENST00000683235.1:c.627+7A>G	ENSP00000507646.1:n.627+7A>G
ENST00000683381.1:c.627+7A>G	ENSP00000508184.1:n.627+7A>G
ENST00000683672.1:c.*122A>G	ENSP00000506781.1:n.*122A>G
ENST00000683692.1:c.120+7A>G	ENSP00000507964.1:n.120+7A>G
ENST00000684584.1:c.120+7A>G	ENSP00000508044.1:n.120+7A>G
ENST00000259008.7:c.627+7A>G MANE Select	ENSP00000259008.2:n.627+7A>G
ENST00000259008.6:c.627+7A>G	ENSP00000259008.2:n.627+7A>G
ENST00000577598.5:c.627+7A>G	ENSP00000464654.1:n.627+7A>G
NM_032043.2:c.627+7A>G , LRG_300t1:c.627+7A>G	NP_114432.2:n.627+7A>G
XM_011525332.1:c.627+7A>G	XP_011523634.1:n.627+7A>G
XM_011525333.1:c.627+7A>G	XP_011523635.1:n.627+7A>G
XM_011525334.1:c.627+7A>G	XP_011523636.1:n.627+7A>G
XM_011525335.1:c.627+7A>G	XP_011523637.1:n.627+7A>G
XM_011525336.1:c.627+7A>G	XP_011523638.1:n.627+7A>G
XM_011525337.1:c.627+7A>G	XP_011523639.1:n.627+7A>G
XM_011525338.1:c.144+7A>G	XP_011523640.1:n.144+7A>G
XM_011525339.1:c.627+7A>G	XP_011523641.1:n.627+7A>G
XM_011525340.1:c.627+7A>G	XP_011523642.1:n.627+7A>G
XM_011525341.1:c.627+7A>G	XP_011523643.1:n.627+7A>G
XM_011525332.3:c.627+7A>G	XP_011523634.1:n.627+7A>G
XM_011525333.3:c.627+7A>G	XP_011523635.1:n.627+7A>G
XM_011525334.2:c.627+7A>G	XP_011523636.1:n.627+7A>G
XM_011525335.3:c.627+7A>G	XP_011523637.1:n.627+7A>G
XM_011525336.2:c.627+7A>G	XP_011523638.1:n.627+7A>G
XM_011525337.2:c.627+7A>G	XP_011523639.1:n.627+7A>G
XM_011525338.2:c.144+7A>G	XP_011523640.1:n.144+7A>G
XM_011525339.3:c.627+7A>G	XP_011523641.1:n.627+7A>G
XM_011525340.3:c.627+7A>G	XP_011523642.1:n.627+7A>G
XM_011525341.3:c.627+7A>G	XP_011523643.1:n.627+7A>G
XM_017025200.1:c.144+7A>G	XP_016880689.1:n.144+7A>G
NM_032043.3:c.627+7A>G MANE Select	NP_114432.2:n.627+7A>G