Canonical Allele Identifier: CA501335281

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 491463
• ClinVar RCV Id: RCV000584276 ; RCV000636224
• dbSNP Id: rs1291039468
• MyVariant Identifiers: chr17:g.59761182T>A (hg19) ; chr17:g.61683821T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683821T>A , CM000679.2:g.61683821T>A	GRCh38
NC_000017.10:g.59761182T>A , CM000679.1:g.59761182T>A	GRCh37
NC_000017.9:g.57115964T>A	NCBI36
NG_007409.2:g.184739A>T , LRG_300:g.184739A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1965A>T
ENST00000682453.1:c.3225A>T	ENSP00000506943.1:p.Ser1075=
ENST00000682477.1:c.*2651A>T	ENSP00000507075.1:n.*2651A>T
ENST00000682589.1:n.9102A>T
ENST00000682755.1:c.3003A>T	ENSP00000507660.1:p.Ser1001=
ENST00000682989.1:c.*316A>T	ENSP00000507786.1:n.*316A>T
ENST00000683039.1:c.3225A>T	ENSP00000508303.1:p.Ser1075=
ENST00000683235.1:c.*640A>T	ENSP00000507646.1:n.*640A>T
ENST00000683535.1:n.1355A>T
ENST00000684584.1:c.2388A>T	ENSP00000508044.1:p.Ser796=
ENST00000684626.1:n.1471A>T
ENST00000684769.1:c.1415A>T	ENSP00000507691.1:n.1415A>T
ENST00000259008.7:c.3225A>T MANE Select	ENSP00000259008.2:p.Ser1075=
ENST00000259008.6:c.3225A>T	ENSP00000259008.2:p.Ser1075=
NM_032043.2:c.3225A>T , LRG_300t1:c.3225A>T	NP_114432.2:p.Ser1075=
XM_011525332.1:c.3285A>T	XP_011523634.1:p.Ser1095=
XM_011525333.1:c.3285A>T	XP_011523635.1:p.Ser1095=
XM_011525334.1:c.3285A>T	XP_011523636.1:p.Ser1095=
XM_011525335.1:c.3225A>T	XP_011523637.1:p.Ser1075=
XM_011525336.1:c.3165A>T	XP_011523638.1:p.Ser1055=
XM_011525337.1:c.3084A>T	XP_011523639.1:p.Ser1028=
XM_011525338.1:c.2802A>T	XP_011523640.1:p.Ser934=
XM_011525332.3:c.3285A>T	XP_011523634.1:p.Ser1095=
XM_011525333.3:c.3285A>T	XP_011523635.1:p.Ser1095=
XM_011525334.2:c.3285A>T	XP_011523636.1:p.Ser1095=
XM_011525335.3:c.3225A>T	XP_011523637.1:p.Ser1075=
XM_011525336.2:c.3165A>T	XP_011523638.1:p.Ser1055=
XM_011525337.2:c.3084A>T	XP_011523639.1:p.Ser1028=
XM_011525338.2:c.2802A>T	XP_011523640.1:p.Ser934=
XM_017025200.1:c.2742A>T	XP_016880689.1:p.Ser914=
XM_017025201.1:c.2742A>T	XP_016880690.1:p.Ser914=
XM_017025202.1:c.1371A>T	XP_016880691.1:p.Ser457=
XM_017025203.1:c.1371A>T	XP_016880692.1:p.Ser457=
NM_032043.3:c.3225A>T MANE Select	NP_114432.2:p.Ser1075=