Canonical Allele Identifier: CA400479008

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 530336
• ClinVar RCV Id: RCV000636150
• dbSNP Id: rs1555572698
• MyVariant Identifiers: chr17:g.59761097C>A (hg19) ; chr17:g.61683736C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683736C>A , CM000679.2:g.61683736C>A	GRCh38
NC_000017.10:g.59761097C>A , CM000679.1:g.59761097C>A	GRCh37
NC_000017.9:g.57115879C>A	NCBI36
NG_007409.2:g.184824G>T , LRG_300:g.184824G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2050G>T
ENST00000682453.1:c.3310G>T	ENSP00000506943.1:p.Glu1104Ter
ENST00000682477.1:c.*2736G>T	ENSP00000507075.1:n.*2736G>T
ENST00000682589.1:n.9187G>T
ENST00000682755.1:c.3088G>T	ENSP00000507660.1:p.Glu1030Ter
ENST00000682989.1:c.*401G>T	ENSP00000507786.1:n.*401G>T
ENST00000683039.1:c.3310G>T	ENSP00000508303.1:p.Glu1104Ter
ENST00000683235.1:c.*725G>T	ENSP00000507646.1:n.*725G>T
ENST00000683535.1:n.1440G>T
ENST00000684584.1:c.2473G>T	ENSP00000508044.1:p.Glu825Ter
ENST00000684626.1:n.1556G>T
ENST00000684769.1:c.1500G>T	ENSP00000507691.1:n.1500G>T
ENST00000259008.7:c.3310G>T MANE Select	ENSP00000259008.2:p.Glu1104Ter
ENST00000259008.6:c.3310G>T	ENSP00000259008.2:p.Glu1104Ter
NM_032043.2:c.3310G>T , LRG_300t1:c.3310G>T	NP_114432.2:p.Glu1104Ter
XM_011525332.1:c.3370G>T	XP_011523634.1:p.Glu1124Ter
XM_011525333.1:c.3370G>T	XP_011523635.1:p.Glu1124Ter
XM_011525334.1:c.3370G>T	XP_011523636.1:p.Glu1124Ter
XM_011525335.1:c.3310G>T	XP_011523637.1:p.Glu1104Ter
XM_011525336.1:c.3250G>T	XP_011523638.1:p.Glu1084Ter
XM_011525337.1:c.3169G>T	XP_011523639.1:p.Glu1057Ter
XM_011525338.1:c.2887G>T	XP_011523640.1:p.Glu963Ter
XM_011525332.3:c.3370G>T	XP_011523634.1:p.Glu1124Ter
XM_011525333.3:c.3370G>T	XP_011523635.1:p.Glu1124Ter
XM_011525334.2:c.3370G>T	XP_011523636.1:p.Glu1124Ter
XM_011525335.3:c.3310G>T	XP_011523637.1:p.Glu1104Ter
XM_011525336.2:c.3250G>T	XP_011523638.1:p.Glu1084Ter
XM_011525337.2:c.3169G>T	XP_011523639.1:p.Glu1057Ter
XM_011525338.2:c.2887G>T	XP_011523640.1:p.Glu963Ter
XM_017025200.1:c.2827G>T	XP_016880689.1:p.Glu943Ter
XM_017025201.1:c.2827G>T	XP_016880690.1:p.Glu943Ter
XM_017025202.1:c.1456G>T	XP_016880691.1:p.Glu486Ter
XM_017025203.1:c.1456G>T	XP_016880692.1:p.Glu486Ter
NM_032043.3:c.3310G>T MANE Select	NP_114432.2:p.Glu1104Ter