Canonical Allele Identifier: CA192862

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 185764
• ClinVar RCV Id: RCV002307422
• dbSNP Id: rs45617634
• ExAC: 17:59934428 T / G
• gnomAD v2: 17-59934428-T-G
• gnomAD v3: 17-61857067-T-G
• gnomAD v4: 17-61857067-T-G
• MyVariant Identifiers: chr17:g.59934428T>G (hg19) ; chr17:g.61857067T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61857067T>G , CM000679.2:g.61857067T>G	GRCh38
NC_000017.10:g.59934428T>G , CM000679.1:g.59934428T>G	GRCh37
NC_000017.9:g.57289210T>G	NCBI36
NG_007409.2:g.11493A>C , LRG_300:g.11493A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000577913.2:c.370A>C	ENSP00000462274.2:p.Thr124Pro
ENST00000584322.2:c.370A>C	ENSP00000463272.2:p.Thr124Pro
ENST00000682369.1:c.370A>C	ENSP00000507450.1:p.Thr124Pro
ENST00000682453.1:c.370A>C	ENSP00000506943.1:p.Thr124Pro
ENST00000682477.1:c.370A>C	ENSP00000507075.1:p.Thr124Pro
ENST00000682589.1:n.2111A>C
ENST00000682755.1:c.370A>C	ENSP00000507660.1:p.Thr124Pro
ENST00000682989.1:c.370A>C	ENSP00000507786.1:p.Thr124Pro
ENST00000683039.1:c.370A>C	ENSP00000508303.1:p.Thr124Pro
ENST00000683235.1:c.370A>C	ENSP00000507646.1:p.Thr124Pro
ENST00000683381.1:c.370A>C	ENSP00000508184.1:p.Thr124Pro
ENST00000683672.1:c.73A>C	ENSP00000506781.1:p.Thr25Pro
ENST00000259008.7:c.370A>C MANE Select	ENSP00000259008.2:p.Thr124Pro
ENST00000259008.6:c.370A>C	ENSP00000259008.2:p.Thr124Pro
ENST00000577598.5:c.370A>C	ENSP00000464654.1:p.Thr124Pro
NM_032043.2:c.370A>C , LRG_300t1:c.370A>C	NP_114432.2:p.Thr124Pro
XM_011525332.1:c.370A>C	XP_011523634.1:p.Thr124Pro
XM_011525333.1:c.370A>C	XP_011523635.1:p.Thr124Pro
XM_011525334.1:c.370A>C	XP_011523636.1:p.Thr124Pro
XM_011525335.1:c.370A>C	XP_011523637.1:p.Thr124Pro
XM_011525336.1:c.370A>C	XP_011523638.1:p.Thr124Pro
XM_011525337.1:c.370A>C	XP_011523639.1:p.Thr124Pro
XM_011525338.1:c.15A>C	XP_011523640.1:p.Gln5His
XM_011525339.1:c.370A>C	XP_011523641.1:p.Thr124Pro
XM_011525340.1:c.370A>C	XP_011523642.1:p.Thr124Pro
XM_011525341.1:c.370A>C	XP_011523643.1:p.Thr124Pro
XM_011525332.3:c.370A>C	XP_011523634.1:p.Thr124Pro
XM_011525333.3:c.370A>C	XP_011523635.1:p.Thr124Pro
XM_011525334.2:c.370A>C	XP_011523636.1:p.Thr124Pro
XM_011525335.3:c.370A>C	XP_011523637.1:p.Thr124Pro
XM_011525336.2:c.370A>C	XP_011523638.1:p.Thr124Pro
XM_011525337.2:c.370A>C	XP_011523639.1:p.Thr124Pro
XM_011525338.2:c.15A>C	XP_011523640.1:p.Gln5His
XM_011525339.3:c.370A>C	XP_011523641.1:p.Thr124Pro
XM_011525340.3:c.370A>C	XP_011523642.1:p.Thr124Pro
XM_011525341.3:c.370A>C	XP_011523643.1:p.Thr124Pro
XM_017025200.1:c.15A>C	XP_016880689.1:p.Gln5His
NM_032043.3:c.370A>C MANE Select	NP_114432.2:p.Thr124Pro