Canonical Allele Identifier: CA501335221

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 793954
• ClinVar RCV Id: RCV001464985
• dbSNP Id: rs876659839
• MyVariant Identifiers: chr17:g.59760812G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683451G>A , CM000679.2:g.61683451G>A	GRCh38
NC_000017.10:g.59760812G>A , CM000679.1:g.59760812G>A	GRCh37
NC_000017.9:g.57115594G>A	NCBI36
NG_007409.2:g.185109C>T , LRG_300:g.185109C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2335C>T
ENST00000682453.1:c.3595C>T	ENSP00000506943.1:p.Leu1199=
ENST00000682477.1:c.*3021C>T	ENSP00000507075.1:n.*3021C>T
ENST00000682589.1:n.9472C>T
ENST00000682755.1:c.3373C>T	ENSP00000507660.1:p.Leu1125=
ENST00000682989.1:c.*686C>T	ENSP00000507786.1:n.*686C>T
ENST00000683039.1:c.3595C>T	ENSP00000508303.1:p.Leu1199=
ENST00000683235.1:c.*1010C>T	ENSP00000507646.1:n.*1010C>T
ENST00000683535.1:n.1725C>T
ENST00000684584.1:c.2758C>T	ENSP00000508044.1:p.Leu920=
ENST00000684626.1:n.1841C>T
ENST00000684769.1:c.1785C>T	ENSP00000507691.1:n.1785C>T
ENST00000259008.7:c.3595C>T MANE Select	ENSP00000259008.2:p.Leu1199=
ENST00000259008.6:c.3595C>T	ENSP00000259008.2:p.Leu1199=
NM_032043.2:c.3595C>T , LRG_300t1:c.3595C>T	NP_114432.2:p.Leu1199=
XM_011525332.1:c.3655C>T	XP_011523634.1:p.Leu1219=
XM_011525333.1:c.3655C>T	XP_011523635.1:p.Leu1219=
XM_011525334.1:c.3655C>T	XP_011523636.1:p.Leu1219=
XM_011525335.1:c.3595C>T	XP_011523637.1:p.Leu1199=
XM_011525336.1:c.3535C>T	XP_011523638.1:p.Leu1179=
XM_011525337.1:c.3454C>T	XP_011523639.1:p.Leu1152=
XM_011525338.1:c.3172C>T	XP_011523640.1:p.Leu1058=
XM_011525332.3:c.3655C>T	XP_011523634.1:p.Leu1219=
XM_011525333.3:c.3655C>T	XP_011523635.1:p.Leu1219=
XM_011525334.2:c.3655C>T	XP_011523636.1:p.Leu1219=
XM_011525335.3:c.3595C>T	XP_011523637.1:p.Leu1199=
XM_011525336.2:c.3535C>T	XP_011523638.1:p.Leu1179=
XM_011525337.2:c.3454C>T	XP_011523639.1:p.Leu1152=
XM_011525338.2:c.3172C>T	XP_011523640.1:p.Leu1058=
XM_017025200.1:c.3112C>T	XP_016880689.1:p.Leu1038=
XM_017025201.1:c.3112C>T	XP_016880690.1:p.Leu1038=
XM_017025202.1:c.1741C>T	XP_016880691.1:p.Leu581=
XM_017025203.1:c.1741C>T	XP_016880692.1:p.Leu581=
NM_032043.3:c.3595C>T MANE Select	NP_114432.2:p.Leu1199=