Canonical Allele Identifier: CA10583625

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 241638
• ClinVar RCV Id: RCV000229169 ; RCV003335279
• dbSNP Id: rs878855145
• MyVariant Identifiers: chr17:g.59821912A>C (hg19) ; chr17:g.61744551A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61744551A>C , CM000679.2:g.61744551A>C	GRCh38
NC_000017.10:g.59821912A>C , CM000679.1:g.59821912A>C	GRCh37
NC_000017.9:g.57176694A>C	NCBI36
NG_007409.2:g.124009T>G , LRG_300:g.124009T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.1720T>G	ENSP00000463827.2:n.1720T>G
ENST00000584322.2:c.2138T>G	ENSP00000463272.2:p.Leu713Ter
ENST00000682066.1:c.2268T>G	ENSP00000507191.1:n.2268T>G
ENST00000682073.1:n.878T>G
ENST00000682433.1:n.1217T>G
ENST00000682453.1:c.2138T>G	ENSP00000506943.1:p.Leu713Ter
ENST00000682477.1:c.*1564T>G	ENSP00000507075.1:n.*1564T>G
ENST00000682589.1:n.8015T>G
ENST00000682755.1:c.1916T>G	ENSP00000507660.1:p.Leu639Ter
ENST00000682989.1:c.2138T>G	ENSP00000507786.1:p.Leu713Ter
ENST00000683039.1:c.2138T>G	ENSP00000508303.1:p.Leu713Ter
ENST00000683235.1:c.2138T>G	ENSP00000507646.1:p.Leu713Ter
ENST00000683381.1:c.2198T>G	ENSP00000508184.1:p.Leu733Ter
ENST00000683535.1:n.268T>G
ENST00000684471.1:n.551T>G
ENST00000684584.1:c.1631T>G	ENSP00000508044.1:p.Leu544Ter
ENST00000684769.1:c.203T>G	ENSP00000507691.1:p.Leu68Ter
ENST00000259008.7:c.2138T>G MANE Select	ENSP00000259008.2:p.Leu713Ter
ENST00000259008.6:c.2138T>G	ENSP00000259008.2:p.Leu713Ter
ENST00000577598.5:c.2138T>G	ENSP00000464654.1:p.Leu713Ter
ENST00000584322.1:c.121T>G
NM_032043.2:c.2138T>G , LRG_300t1:c.2138T>G	NP_114432.2:p.Leu713Ter
XM_011525332.1:c.2198T>G	XP_011523634.1:p.Leu733Ter
XM_011525333.1:c.2198T>G	XP_011523635.1:p.Leu733Ter
XM_011525334.1:c.2198T>G	XP_011523636.1:p.Leu733Ter
XM_011525335.1:c.2138T>G	XP_011523637.1:p.Leu713Ter
XM_011525336.1:c.2078T>G	XP_011523638.1:p.Leu693Ter
XM_011525337.1:c.1997T>G	XP_011523639.1:p.Leu666Ter
XM_011525338.1:c.1715T>G	XP_011523640.1:p.Leu572Ter
XM_011525339.1:c.2198T>G	XP_011523641.1:p.Leu733Ter
XM_011525340.1:c.2198T>G	XP_011523642.1:p.Leu733Ter
XM_011525332.3:c.2198T>G	XP_011523634.1:p.Leu733Ter
XM_011525333.3:c.2198T>G	XP_011523635.1:p.Leu733Ter
XM_011525334.2:c.2198T>G	XP_011523636.1:p.Leu733Ter
XM_011525335.3:c.2138T>G	XP_011523637.1:p.Leu713Ter
XM_011525336.2:c.2078T>G	XP_011523638.1:p.Leu693Ter
XM_011525337.2:c.1997T>G	XP_011523639.1:p.Leu666Ter
XM_011525338.2:c.1715T>G	XP_011523640.1:p.Leu572Ter
XM_011525339.3:c.2198T>G	XP_011523641.1:p.Leu733Ter
XM_011525340.3:c.2198T>G	XP_011523642.1:p.Leu733Ter
XM_017025200.1:c.1655T>G	XP_016880689.1:p.Leu552Ter
XM_017025201.1:c.1655T>G	XP_016880690.1:p.Leu552Ter
XM_017025202.1:c.284T>G	XP_016880691.1:p.Leu95Ter
XM_017025203.1:c.284T>G	XP_016880692.1:p.Leu95Ter
NM_032043.3:c.2138T>G MANE Select	NP_114432.2:p.Leu713Ter