Canonical Allele Identifier: CA8690970

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 392293
• ClinVar RCV Id: RCV000420174 ; RCV000563017 ; RCV001411770
• dbSNP Id: rs745422385
• ExAC: 17:59934558 A / C
• gnomAD v2: 17-59934558-A-C
• gnomAD v4: 17-61857197-A-C
• MyVariant Identifiers: chr17:g.59934558A>C (hg19) ; chr17:g.61857197A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61857197A>C , CM000679.2:g.61857197A>C	GRCh38
NC_000017.10:g.59934558A>C , CM000679.1:g.59934558A>C	GRCh37
NC_000017.9:g.57289340A>C	NCBI36
NG_007409.2:g.11363T>G , LRG_300:g.11363T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000577913.2:c.240T>G	ENSP00000462274.2:p.Ala80=
ENST00000584322.2:c.240T>G	ENSP00000463272.2:p.Ala80=
ENST00000682369.1:c.240T>G	ENSP00000507450.1:p.Ala80=
ENST00000682453.1:c.240T>G	ENSP00000506943.1:p.Ala80=
ENST00000682477.1:c.240T>G	ENSP00000507075.1:p.Ala80=
ENST00000682589.1:n.1981T>G
ENST00000682755.1:c.240T>G	ENSP00000507660.1:p.Ala80=
ENST00000682989.1:c.240T>G	ENSP00000507786.1:p.Ala80=
ENST00000683039.1:c.240T>G	ENSP00000508303.1:p.Ala80=
ENST00000683235.1:c.240T>G	ENSP00000507646.1:p.Ala80=
ENST00000683381.1:c.240T>G	ENSP00000508184.1:p.Ala80=
ENST00000683672.1:c.-58T>G	ENSP00000506781.1:n.-58T>G
ENST00000259008.7:c.240T>G MANE Select	ENSP00000259008.2:p.Ala80=
ENST00000259008.6:c.240T>G	ENSP00000259008.2:p.Ala80=
ENST00000577598.5:c.240T>G	ENSP00000464654.1:p.Ala80=
NM_032043.2:c.240T>G , LRG_300t1:c.240T>G	NP_114432.2:p.Ala80=
XM_011525332.1:c.240T>G	XP_011523634.1:p.Ala80=
XM_011525333.1:c.240T>G	XP_011523635.1:p.Ala80=
XM_011525334.1:c.240T>G	XP_011523636.1:p.Ala80=
XM_011525335.1:c.240T>G	XP_011523637.1:p.Ala80=
XM_011525336.1:c.240T>G	XP_011523638.1:p.Ala80=
XM_011525337.1:c.240T>G	XP_011523639.1:p.Ala80=
XM_011525339.1:c.240T>G	XP_011523641.1:p.Ala80=
XM_011525340.1:c.240T>G	XP_011523642.1:p.Ala80=
XM_011525341.1:c.240T>G	XP_011523643.1:p.Ala80=
XM_011525332.3:c.240T>G	XP_011523634.1:p.Ala80=
XM_011525333.3:c.240T>G	XP_011523635.1:p.Ala80=
XM_011525334.2:c.240T>G	XP_011523636.1:p.Ala80=
XM_011525335.3:c.240T>G	XP_011523637.1:p.Ala80=
XM_011525336.2:c.240T>G	XP_011523638.1:p.Ala80=
XM_011525337.2:c.240T>G	XP_011523639.1:p.Ala80=
XM_011525339.3:c.240T>G	XP_011523641.1:p.Ala80=
XM_011525340.3:c.240T>G	XP_011523642.1:p.Ala80=
XM_011525341.3:c.240T>G	XP_011523643.1:p.Ala80=
NM_032043.3:c.240T>G MANE Select	NP_114432.2:p.Ala80=