Canonical Allele Identifier: CA400479461

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1368493
• ClinVar RCV Id: RCV001894663
• dbSNP Id: rs2144085839
• gnomAD v4: 17-61683877-T-C
• MyVariant Identifiers: chr17:g.59761238T>C (hg19) ; chr17:g.61683877T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683877T>C , CM000679.2:g.61683877T>C	GRCh38
NC_000017.10:g.59761238T>C , CM000679.1:g.59761238T>C	GRCh37
NC_000017.9:g.57116020T>C	NCBI36
NG_007409.2:g.184683A>G , LRG_300:g.184683A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1909A>G
ENST00000682453.1:c.3169A>G	ENSP00000506943.1:p.Asn1057Asp
ENST00000682477.1:c.*2595A>G	ENSP00000507075.1:n.*2595A>G
ENST00000682589.1:n.9046A>G
ENST00000682755.1:c.2947A>G	ENSP00000507660.1:p.Asn983Asp
ENST00000682989.1:c.*260A>G	ENSP00000507786.1:n.*260A>G
ENST00000683039.1:c.3169A>G	ENSP00000508303.1:p.Asn1057Asp
ENST00000683235.1:c.*584A>G	ENSP00000507646.1:n.*584A>G
ENST00000683535.1:n.1299A>G
ENST00000684584.1:c.2332A>G	ENSP00000508044.1:p.Asn778Asp
ENST00000684626.1:n.1415A>G
ENST00000684769.1:c.1359A>G	ENSP00000507691.1:n.1359A>G
ENST00000259008.7:c.3169A>G MANE Select	ENSP00000259008.2:p.Asn1057Asp
ENST00000259008.6:c.3169A>G	ENSP00000259008.2:p.Asn1057Asp
NM_032043.2:c.3169A>G , LRG_300t1:c.3169A>G	NP_114432.2:p.Asn1057Asp
XM_011525332.1:c.3229A>G	XP_011523634.1:p.Asn1077Asp
XM_011525333.1:c.3229A>G	XP_011523635.1:p.Asn1077Asp
XM_011525334.1:c.3229A>G	XP_011523636.1:p.Asn1077Asp
XM_011525335.1:c.3169A>G	XP_011523637.1:p.Asn1057Asp
XM_011525336.1:c.3109A>G	XP_011523638.1:p.Asn1037Asp
XM_011525337.1:c.3028A>G	XP_011523639.1:p.Asn1010Asp
XM_011525338.1:c.2746A>G	XP_011523640.1:p.Asn916Asp
XM_011525332.3:c.3229A>G	XP_011523634.1:p.Asn1077Asp
XM_011525333.3:c.3229A>G	XP_011523635.1:p.Asn1077Asp
XM_011525334.2:c.3229A>G	XP_011523636.1:p.Asn1077Asp
XM_011525335.3:c.3169A>G	XP_011523637.1:p.Asn1057Asp
XM_011525336.2:c.3109A>G	XP_011523638.1:p.Asn1037Asp
XM_011525337.2:c.3028A>G	XP_011523639.1:p.Asn1010Asp
XM_011525338.2:c.2746A>G	XP_011523640.1:p.Asn916Asp
XM_017025200.1:c.2686A>G	XP_016880689.1:p.Asn896Asp
XM_017025201.1:c.2686A>G	XP_016880690.1:p.Asn896Asp
XM_017025202.1:c.1315A>G	XP_016880691.1:p.Asn439Asp
XM_017025203.1:c.1315A>G	XP_016880692.1:p.Asn439Asp
NM_032043.3:c.3169A>G MANE Select	NP_114432.2:p.Asn1057Asp