Canonical Allele Identifier: CA8690383

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1044878
• ClinVar RCV Id: RCV001349198 ; RCV002447427
• dbSNP Id: rs570238270
• ExAC: 17:59761173 C / A
• gnomAD v2: 17-59761173-C-A
• gnomAD v4: 17-61683812-C-A
• MyVariant Identifiers: chr17:g.59761173C>A (hg19) ; chr17:g.61683812C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683812C>A , CM000679.2:g.61683812C>A	GRCh38
NC_000017.10:g.59761173C>A , CM000679.1:g.59761173C>A	GRCh37
NC_000017.9:g.57115955C>A	NCBI36
NG_007409.2:g.184748G>T , LRG_300:g.184748G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1974G>T
ENST00000682453.1:c.3234G>T	ENSP00000506943.1:p.Lys1078Asn
ENST00000682477.1:c.*2660G>T	ENSP00000507075.1:n.*2660G>T
ENST00000682589.1:n.9111G>T
ENST00000682755.1:c.3012G>T	ENSP00000507660.1:p.Lys1004Asn
ENST00000682989.1:c.*325G>T	ENSP00000507786.1:n.*325G>T
ENST00000683039.1:c.3234G>T	ENSP00000508303.1:p.Lys1078Asn
ENST00000683235.1:c.*649G>T	ENSP00000507646.1:n.*649G>T
ENST00000683535.1:n.1364G>T
ENST00000684584.1:c.2397G>T	ENSP00000508044.1:p.Lys799Asn
ENST00000684626.1:n.1480G>T
ENST00000684769.1:c.1424G>T	ENSP00000507691.1:n.1424G>T
ENST00000259008.7:c.3234G>T MANE Select	ENSP00000259008.2:p.Lys1078Asn
ENST00000259008.6:c.3234G>T	ENSP00000259008.2:p.Lys1078Asn
NM_032043.2:c.3234G>T , LRG_300t1:c.3234G>T	NP_114432.2:p.Lys1078Asn
XM_011525332.1:c.3294G>T	XP_011523634.1:p.Lys1098Asn
XM_011525333.1:c.3294G>T	XP_011523635.1:p.Lys1098Asn
XM_011525334.1:c.3294G>T	XP_011523636.1:p.Lys1098Asn
XM_011525335.1:c.3234G>T	XP_011523637.1:p.Lys1078Asn
XM_011525336.1:c.3174G>T	XP_011523638.1:p.Lys1058Asn
XM_011525337.1:c.3093G>T	XP_011523639.1:p.Lys1031Asn
XM_011525338.1:c.2811G>T	XP_011523640.1:p.Lys937Asn
XM_011525332.3:c.3294G>T	XP_011523634.1:p.Lys1098Asn
XM_011525333.3:c.3294G>T	XP_011523635.1:p.Lys1098Asn
XM_011525334.2:c.3294G>T	XP_011523636.1:p.Lys1098Asn
XM_011525335.3:c.3234G>T	XP_011523637.1:p.Lys1078Asn
XM_011525336.2:c.3174G>T	XP_011523638.1:p.Lys1058Asn
XM_011525337.2:c.3093G>T	XP_011523639.1:p.Lys1031Asn
XM_011525338.2:c.2811G>T	XP_011523640.1:p.Lys937Asn
XM_017025200.1:c.2751G>T	XP_016880689.1:p.Lys917Asn
XM_017025201.1:c.2751G>T	XP_016880690.1:p.Lys917Asn
XM_017025202.1:c.1380G>T	XP_016880691.1:p.Lys460Asn
XM_017025203.1:c.1380G>T	XP_016880692.1:p.Lys460Asn
NM_032043.3:c.3234G>T MANE Select	NP_114432.2:p.Lys1078Asn