Canonical Allele Identifier: CA400479110

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 628857
• ClinVar RCV Id: RCV000773520
• dbSNP Id: rs1430023275
• gnomAD v2: 17-59761148-T-C
• gnomAD v3: 17-61683787-T-C
• gnomAD v4: 17-61683787-T-C
• MyVariant Identifiers: chr17:g.59761148T>C (hg19) ; chr17:g.61683787T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683787T>C , CM000679.2:g.61683787T>C	GRCh38
NC_000017.10:g.59761148T>C , CM000679.1:g.59761148T>C	GRCh37
NC_000017.9:g.57115930T>C	NCBI36
NG_007409.2:g.184773A>G , LRG_300:g.184773A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1999A>G
ENST00000682453.1:c.3259A>G	ENSP00000506943.1:p.Asn1087Asp
ENST00000682477.1:c.*2685A>G	ENSP00000507075.1:n.*2685A>G
ENST00000682589.1:n.9136A>G
ENST00000682755.1:c.3037A>G	ENSP00000507660.1:p.Asn1013Asp
ENST00000682989.1:c.*350A>G	ENSP00000507786.1:n.*350A>G
ENST00000683039.1:c.3259A>G	ENSP00000508303.1:p.Asn1087Asp
ENST00000683235.1:c.*674A>G	ENSP00000507646.1:n.*674A>G
ENST00000683535.1:n.1389A>G
ENST00000684584.1:c.2422A>G	ENSP00000508044.1:p.Asn808Asp
ENST00000684626.1:n.1505A>G
ENST00000684769.1:c.1449A>G	ENSP00000507691.1:n.1449A>G
ENST00000259008.7:c.3259A>G MANE Select	ENSP00000259008.2:p.Asn1087Asp
ENST00000259008.6:c.3259A>G	ENSP00000259008.2:p.Asn1087Asp
NM_032043.2:c.3259A>G , LRG_300t1:c.3259A>G	NP_114432.2:p.Asn1087Asp
XM_011525332.1:c.3319A>G	XP_011523634.1:p.Asn1107Asp
XM_011525333.1:c.3319A>G	XP_011523635.1:p.Asn1107Asp
XM_011525334.1:c.3319A>G	XP_011523636.1:p.Asn1107Asp
XM_011525335.1:c.3259A>G	XP_011523637.1:p.Asn1087Asp
XM_011525336.1:c.3199A>G	XP_011523638.1:p.Asn1067Asp
XM_011525337.1:c.3118A>G	XP_011523639.1:p.Asn1040Asp
XM_011525338.1:c.2836A>G	XP_011523640.1:p.Asn946Asp
XM_011525332.3:c.3319A>G	XP_011523634.1:p.Asn1107Asp
XM_011525333.3:c.3319A>G	XP_011523635.1:p.Asn1107Asp
XM_011525334.2:c.3319A>G	XP_011523636.1:p.Asn1107Asp
XM_011525335.3:c.3259A>G	XP_011523637.1:p.Asn1087Asp
XM_011525336.2:c.3199A>G	XP_011523638.1:p.Asn1067Asp
XM_011525337.2:c.3118A>G	XP_011523639.1:p.Asn1040Asp
XM_011525338.2:c.2836A>G	XP_011523640.1:p.Asn946Asp
XM_017025200.1:c.2776A>G	XP_016880689.1:p.Asn926Asp
XM_017025201.1:c.2776A>G	XP_016880690.1:p.Asn926Asp
XM_017025202.1:c.1405A>G	XP_016880691.1:p.Asn469Asp
XM_017025203.1:c.1405A>G	XP_016880692.1:p.Asn469Asp
NM_032043.3:c.3259A>G MANE Select	NP_114432.2:p.Asn1087Asp