Canonical Allele Identifier: CA16615821

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 407865
• ClinVar RCV Id: RCV000465286 ; RCV000775737
• dbSNP Id: rs1060501774
• gnomAD v4: 17-61683718-C-A
• MyVariant Identifiers: chr17:g.59761079C>A (hg19) ; chr17:g.61683718C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683718C>A , CM000679.2:g.61683718C>A	GRCh38
NC_000017.10:g.59761079C>A , CM000679.1:g.59761079C>A	GRCh37
NC_000017.9:g.57115861C>A	NCBI36
NG_007409.2:g.184842G>T , LRG_300:g.184842G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2068G>T
ENST00000682453.1:c.3328G>T	ENSP00000506943.1:p.Glu1110Ter
ENST00000682477.1:c.*2754G>T	ENSP00000507075.1:n.*2754G>T
ENST00000682589.1:n.9205G>T
ENST00000682755.1:c.3106G>T	ENSP00000507660.1:p.Glu1036Ter
ENST00000682989.1:c.*419G>T	ENSP00000507786.1:n.*419G>T
ENST00000683039.1:c.3328G>T	ENSP00000508303.1:p.Glu1110Ter
ENST00000683235.1:c.*743G>T	ENSP00000507646.1:n.*743G>T
ENST00000683535.1:n.1458G>T
ENST00000684584.1:c.2491G>T	ENSP00000508044.1:p.Glu831Ter
ENST00000684626.1:n.1574G>T
ENST00000684769.1:c.1518G>T	ENSP00000507691.1:n.1518G>T
ENST00000259008.7:c.3328G>T MANE Select	ENSP00000259008.2:p.Glu1110Ter
ENST00000259008.6:c.3328G>T	ENSP00000259008.2:p.Glu1110Ter
NM_032043.2:c.3328G>T , LRG_300t1:c.3328G>T	NP_114432.2:p.Glu1110Ter
XM_011525332.1:c.3388G>T	XP_011523634.1:p.Glu1130Ter
XM_011525333.1:c.3388G>T	XP_011523635.1:p.Glu1130Ter
XM_011525334.1:c.3388G>T	XP_011523636.1:p.Glu1130Ter
XM_011525335.1:c.3328G>T	XP_011523637.1:p.Glu1110Ter
XM_011525336.1:c.3268G>T	XP_011523638.1:p.Glu1090Ter
XM_011525337.1:c.3187G>T	XP_011523639.1:p.Glu1063Ter
XM_011525338.1:c.2905G>T	XP_011523640.1:p.Glu969Ter
XM_011525332.3:c.3388G>T	XP_011523634.1:p.Glu1130Ter
XM_011525333.3:c.3388G>T	XP_011523635.1:p.Glu1130Ter
XM_011525334.2:c.3388G>T	XP_011523636.1:p.Glu1130Ter
XM_011525335.3:c.3328G>T	XP_011523637.1:p.Glu1110Ter
XM_011525336.2:c.3268G>T	XP_011523638.1:p.Glu1090Ter
XM_011525337.2:c.3187G>T	XP_011523639.1:p.Glu1063Ter
XM_011525338.2:c.2905G>T	XP_011523640.1:p.Glu969Ter
XM_017025200.1:c.2845G>T	XP_016880689.1:p.Glu949Ter
XM_017025201.1:c.2845G>T	XP_016880690.1:p.Glu949Ter
XM_017025202.1:c.1474G>T	XP_016880691.1:p.Glu492Ter
XM_017025203.1:c.1474G>T	XP_016880692.1:p.Glu492Ter
NM_032043.3:c.3328G>T MANE Select	NP_114432.2:p.Glu1110Ter