Canonical Allele Identifier: CA501335166

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1145043
• ClinVar RCV Id: RCV001483738 ; RCV003298855
• dbSNP Id: rs1220971956
• gnomAD v2: 17-59761101-G-A
• gnomAD v4: 17-61683740-G-A
• MyVariant Identifiers: chr17:g.59761101G>A (hg19) ; chr17:g.61683740G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683740G>A , CM000679.2:g.61683740G>A	GRCh38
NC_000017.10:g.59761101G>A , CM000679.1:g.59761101G>A	GRCh37
NC_000017.9:g.57115883G>A	NCBI36
NG_007409.2:g.184820C>T , LRG_300:g.184820C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2046C>T
ENST00000682453.1:c.3306C>T	ENSP00000506943.1:p.Asp1102=
ENST00000682477.1:c.*2732C>T	ENSP00000507075.1:n.*2732C>T
ENST00000682589.1:n.9183C>T
ENST00000682755.1:c.3084C>T	ENSP00000507660.1:p.Asp1028=
ENST00000682989.1:c.*397C>T	ENSP00000507786.1:n.*397C>T
ENST00000683039.1:c.3306C>T	ENSP00000508303.1:p.Asp1102=
ENST00000683235.1:c.*721C>T	ENSP00000507646.1:n.*721C>T
ENST00000683535.1:n.1436C>T
ENST00000684584.1:c.2469C>T	ENSP00000508044.1:p.Asp823=
ENST00000684626.1:n.1552C>T
ENST00000684769.1:c.1496C>T	ENSP00000507691.1:n.1496C>T
ENST00000259008.7:c.3306C>T MANE Select	ENSP00000259008.2:p.Asp1102=
ENST00000259008.6:c.3306C>T	ENSP00000259008.2:p.Asp1102=
NM_032043.2:c.3306C>T , LRG_300t1:c.3306C>T	NP_114432.2:p.Asp1102=
XM_011525332.1:c.3366C>T	XP_011523634.1:p.Asp1122=
XM_011525333.1:c.3366C>T	XP_011523635.1:p.Asp1122=
XM_011525334.1:c.3366C>T	XP_011523636.1:p.Asp1122=
XM_011525335.1:c.3306C>T	XP_011523637.1:p.Asp1102=
XM_011525336.1:c.3246C>T	XP_011523638.1:p.Asp1082=
XM_011525337.1:c.3165C>T	XP_011523639.1:p.Asp1055=
XM_011525338.1:c.2883C>T	XP_011523640.1:p.Asp961=
XM_011525332.3:c.3366C>T	XP_011523634.1:p.Asp1122=
XM_011525333.3:c.3366C>T	XP_011523635.1:p.Asp1122=
XM_011525334.2:c.3366C>T	XP_011523636.1:p.Asp1122=
XM_011525335.3:c.3306C>T	XP_011523637.1:p.Asp1102=
XM_011525336.2:c.3246C>T	XP_011523638.1:p.Asp1082=
XM_011525337.2:c.3165C>T	XP_011523639.1:p.Asp1055=
XM_011525338.2:c.2883C>T	XP_011523640.1:p.Asp961=
XM_017025200.1:c.2823C>T	XP_016880689.1:p.Asp941=
XM_017025201.1:c.2823C>T	XP_016880690.1:p.Asp941=
XM_017025202.1:c.1452C>T	XP_016880691.1:p.Asp484=
XM_017025203.1:c.1452C>T	XP_016880692.1:p.Asp484=
NM_032043.3:c.3306C>T MANE Select	NP_114432.2:p.Asp1102=