Canonical Allele Identifier: CA501335247

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 480900
• ClinVar RCV Id: RCV000564753 ; RCV001398251
• dbSNP Id: rs755440956
• gnomAD v4: 17-61683500-G-T
• MyVariant Identifiers: chr17:g.59760861G>T (hg19) ; chr17:g.61683500G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683500G>T , CM000679.2:g.61683500G>T	GRCh38
NC_000017.10:g.59760861G>T , CM000679.1:g.59760861G>T	GRCh37
NC_000017.9:g.57115643G>T	NCBI36
NG_007409.2:g.185060C>A , LRG_300:g.185060C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2286C>A
ENST00000682453.1:c.3546C>A	ENSP00000506943.1:p.Ala1182=
ENST00000682477.1:c.*2972C>A	ENSP00000507075.1:n.*2972C>A
ENST00000682589.1:n.9423C>A
ENST00000682755.1:c.3324C>A	ENSP00000507660.1:p.Ala1108=
ENST00000682989.1:c.*637C>A	ENSP00000507786.1:n.*637C>A
ENST00000683039.1:c.3546C>A	ENSP00000508303.1:p.Ala1182=
ENST00000683235.1:c.*961C>A	ENSP00000507646.1:n.*961C>A
ENST00000683535.1:n.1676C>A
ENST00000684584.1:c.2709C>A	ENSP00000508044.1:p.Ala903=
ENST00000684626.1:n.1792C>A
ENST00000684769.1:c.1736C>A	ENSP00000507691.1:n.1736C>A
ENST00000259008.7:c.3546C>A MANE Select	ENSP00000259008.2:p.Ala1182=
ENST00000259008.6:c.3546C>A	ENSP00000259008.2:p.Ala1182=
NM_032043.2:c.3546C>A , LRG_300t1:c.3546C>A	NP_114432.2:p.Ala1182=
XM_011525332.1:c.3606C>A	XP_011523634.1:p.Ala1202=
XM_011525333.1:c.3606C>A	XP_011523635.1:p.Ala1202=
XM_011525334.1:c.3606C>A	XP_011523636.1:p.Ala1202=
XM_011525335.1:c.3546C>A	XP_011523637.1:p.Ala1182=
XM_011525336.1:c.3486C>A	XP_011523638.1:p.Ala1162=
XM_011525337.1:c.3405C>A	XP_011523639.1:p.Ala1135=
XM_011525338.1:c.3123C>A	XP_011523640.1:p.Ala1041=
XM_011525332.3:c.3606C>A	XP_011523634.1:p.Ala1202=
XM_011525333.3:c.3606C>A	XP_011523635.1:p.Ala1202=
XM_011525334.2:c.3606C>A	XP_011523636.1:p.Ala1202=
XM_011525335.3:c.3546C>A	XP_011523637.1:p.Ala1182=
XM_011525336.2:c.3486C>A	XP_011523638.1:p.Ala1162=
XM_011525337.2:c.3405C>A	XP_011523639.1:p.Ala1135=
XM_011525338.2:c.3123C>A	XP_011523640.1:p.Ala1041=
XM_017025200.1:c.3063C>A	XP_016880689.1:p.Ala1021=
XM_017025201.1:c.3063C>A	XP_016880690.1:p.Ala1021=
XM_017025202.1:c.1692C>A	XP_016880691.1:p.Ala564=
XM_017025203.1:c.1692C>A	XP_016880692.1:p.Ala564=
NM_032043.3:c.3546C>A MANE Select	NP_114432.2:p.Ala1182=