Canonical Allele Identifier: CA400478919

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 958513
• ClinVar RCV Id: RCV001231696 ; RCV001523996
• dbSNP Id: rs2061310251
• gnomAD v4: 17-61683694-T-C
• MyVariant Identifiers: chr17:g.59761055T>C (hg19) ; chr17:g.61683694T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683694T>C , CM000679.2:g.61683694T>C	GRCh38
NC_000017.10:g.59761055T>C , CM000679.1:g.59761055T>C	GRCh37
NC_000017.9:g.57115837T>C	NCBI36
NG_007409.2:g.184866A>G , LRG_300:g.184866A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2092A>G
ENST00000682453.1:c.3352A>G	ENSP00000506943.1:p.Asn1118Asp
ENST00000682477.1:c.*2778A>G	ENSP00000507075.1:n.*2778A>G
ENST00000682589.1:n.9229A>G
ENST00000682755.1:c.3130A>G	ENSP00000507660.1:p.Asn1044Asp
ENST00000682989.1:c.*443A>G	ENSP00000507786.1:n.*443A>G
ENST00000683039.1:c.3352A>G	ENSP00000508303.1:p.Asn1118Asp
ENST00000683235.1:c.*767A>G	ENSP00000507646.1:n.*767A>G
ENST00000683535.1:n.1482A>G
ENST00000684584.1:c.2515A>G	ENSP00000508044.1:p.Asn839Asp
ENST00000684626.1:n.1598A>G
ENST00000684769.1:c.1542A>G	ENSP00000507691.1:n.1542A>G
ENST00000259008.7:c.3352A>G MANE Select	ENSP00000259008.2:p.Asn1118Asp
ENST00000259008.6:c.3352A>G	ENSP00000259008.2:p.Asn1118Asp
NM_032043.2:c.3352A>G , LRG_300t1:c.3352A>G	NP_114432.2:p.Asn1118Asp
XM_011525332.1:c.3412A>G	XP_011523634.1:p.Asn1138Asp
XM_011525333.1:c.3412A>G	XP_011523635.1:p.Asn1138Asp
XM_011525334.1:c.3412A>G	XP_011523636.1:p.Asn1138Asp
XM_011525335.1:c.3352A>G	XP_011523637.1:p.Asn1118Asp
XM_011525336.1:c.3292A>G	XP_011523638.1:p.Asn1098Asp
XM_011525337.1:c.3211A>G	XP_011523639.1:p.Asn1071Asp
XM_011525338.1:c.2929A>G	XP_011523640.1:p.Asn977Asp
XM_011525332.3:c.3412A>G	XP_011523634.1:p.Asn1138Asp
XM_011525333.3:c.3412A>G	XP_011523635.1:p.Asn1138Asp
XM_011525334.2:c.3412A>G	XP_011523636.1:p.Asn1138Asp
XM_011525335.3:c.3352A>G	XP_011523637.1:p.Asn1118Asp
XM_011525336.2:c.3292A>G	XP_011523638.1:p.Asn1098Asp
XM_011525337.2:c.3211A>G	XP_011523639.1:p.Asn1071Asp
XM_011525338.2:c.2929A>G	XP_011523640.1:p.Asn977Asp
XM_017025200.1:c.2869A>G	XP_016880689.1:p.Asn957Asp
XM_017025201.1:c.2869A>G	XP_016880690.1:p.Asn957Asp
XM_017025202.1:c.1498A>G	XP_016880691.1:p.Asn500Asp
XM_017025203.1:c.1498A>G	XP_016880692.1:p.Asn500Asp
NM_032043.3:c.3352A>G MANE Select	NP_114432.2:p.Asn1118Asp