Canonical Allele Identifier: CA400481678

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 461126
• ClinVar RCV Id: RCV000540935 ; RCV002431577
• dbSNP Id: rs1555573412
• gnomAD v4: 17-61686027-T-C
• MyVariant Identifiers: chr17:g.59763388T>C (hg19) ; chr17:g.61686027T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61686027T>C , CM000679.2:g.61686027T>C	GRCh38
NC_000017.10:g.59763388T>C , CM000679.1:g.59763388T>C	GRCh37
NC_000017.9:g.57118170T>C	NCBI36
NG_007409.2:g.182533A>G , LRG_300:g.182533A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2844A>G	ENSP00000507191.1:n.2844A>G
ENST00000682073.1:n.1454A>G
ENST00000682433.1:n.1793A>G
ENST00000682453.1:c.2714A>G	ENSP00000506943.1:p.Asn905Ser
ENST00000682477.1:c.*2140A>G	ENSP00000507075.1:n.*2140A>G
ENST00000682589.1:n.8591A>G
ENST00000682755.1:c.2492A>G	ENSP00000507660.1:p.Asn831Ser
ENST00000682989.1:c.2610-1887A>G	ENSP00000507786.1:n.2610-1887A>G
ENST00000683039.1:c.2714A>G	ENSP00000508303.1:p.Asn905Ser
ENST00000683235.1:c.*129A>G	ENSP00000507646.1:n.*129A>G
ENST00000683535.1:n.844A>G
ENST00000684471.1:n.1127A>G
ENST00000684584.1:c.2069-1887A>G	ENSP00000508044.1:n.2069-1887A>G
ENST00000684626.1:n.960A>G
ENST00000684769.1:c.904A>G	ENSP00000507691.1:n.904A>G
ENST00000259008.7:c.2714A>G MANE Select	ENSP00000259008.2:p.Asn905Ser
ENST00000259008.6:c.2714A>G	ENSP00000259008.2:p.Asn905Ser
ENST00000577598.5:c.2714A>G	ENSP00000464654.1:p.Asn905Ser
NM_032043.2:c.2714A>G , LRG_300t1:c.2714A>G	NP_114432.2:p.Asn905Ser
XM_011525332.1:c.2774A>G	XP_011523634.1:p.Asn925Ser
XM_011525333.1:c.2774A>G	XP_011523635.1:p.Asn925Ser
XM_011525334.1:c.2774A>G	XP_011523636.1:p.Asn925Ser
XM_011525335.1:c.2714A>G	XP_011523637.1:p.Asn905Ser
XM_011525336.1:c.2654A>G	XP_011523638.1:p.Asn885Ser
XM_011525337.1:c.2573A>G	XP_011523639.1:p.Asn858Ser
XM_011525338.1:c.2291A>G	XP_011523640.1:p.Asn764Ser
XM_011525332.3:c.2774A>G	XP_011523634.1:p.Asn925Ser
XM_011525333.3:c.2774A>G	XP_011523635.1:p.Asn925Ser
XM_011525334.2:c.2774A>G	XP_011523636.1:p.Asn925Ser
XM_011525335.3:c.2714A>G	XP_011523637.1:p.Asn905Ser
XM_011525336.2:c.2654A>G	XP_011523638.1:p.Asn885Ser
XM_011525337.2:c.2573A>G	XP_011523639.1:p.Asn858Ser
XM_011525338.2:c.2291A>G	XP_011523640.1:p.Asn764Ser
XM_017025200.1:c.2231A>G	XP_016880689.1:p.Asn744Ser
XM_017025201.1:c.2231A>G	XP_016880690.1:p.Asn744Ser
XM_017025202.1:c.860A>G	XP_016880691.1:p.Asn287Ser
XM_017025203.1:c.860A>G	XP_016880692.1:p.Asn287Ser
NM_032043.3:c.2714A>G MANE Select	NP_114432.2:p.Asn905Ser