Canonical Allele Identifier: CA289740

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 136577
• ClinVar RCV Id: RCV000124025 ; RCV000580079 ; RCV000679789 ; RCV001397865 ; RCV003149853
• dbSNP Id: rs200050729
• ExAC: 17:59926634 A / T
• gnomAD v2: 17-59926634-A-T
• gnomAD v3: 17-61849273-A-T
• gnomAD v4: 17-61849273-A-T
• MyVariant Identifiers: chr17:g.59926634A>T (hg19) ; chr17:g.61849273A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61849273A>T , CM000679.2:g.61849273A>T	GRCh38
NC_000017.10:g.59926634A>T , CM000679.1:g.59926634A>T	GRCh37
NC_000017.9:g.57281416A>T	NCBI36
NG_007409.2:g.19287T>A , LRG_300:g.19287T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000577913.2:c.380-17T>A	ENSP00000462274.2:n.380-17T>A
ENST00000584322.2:c.380-17T>A	ENSP00000463272.2:n.380-17T>A
ENST00000682369.1:c.380-17T>A	ENSP00000507450.1:n.380-17T>A
ENST00000682453.1:c.380-17T>A	ENSP00000506943.1:n.380-17T>A
ENST00000682477.1:c.380-17T>A	ENSP00000507075.1:n.380-17T>A
ENST00000682589.1:n.2121-17T>A
ENST00000682755.1:c.380-17T>A	ENSP00000507660.1:n.380-17T>A
ENST00000682989.1:c.380-17T>A	ENSP00000507786.1:n.380-17T>A
ENST00000683039.1:c.380-17T>A	ENSP00000508303.1:n.380-17T>A
ENST00000683235.1:c.380-17T>A	ENSP00000507646.1:n.380-17T>A
ENST00000683381.1:c.380-17T>A	ENSP00000508184.1:n.380-17T>A
ENST00000683672.1:c.83-2053T>A	ENSP00000506781.1:n.83-2053T>A
ENST00000259008.7:c.380-17T>A MANE Select	ENSP00000259008.2:n.380-17T>A
ENST00000259008.6:c.380-17T>A	ENSP00000259008.2:n.380-17T>A
ENST00000577598.5:c.380-17T>A	ENSP00000464654.1:n.380-17T>A
NM_032043.2:c.380-17T>A , LRG_300t1:c.380-17T>A	NP_114432.2:n.380-17T>A
XM_011525332.1:c.380-17T>A	XP_011523634.1:n.380-17T>A
XM_011525333.1:c.380-17T>A	XP_011523635.1:n.380-17T>A
XM_011525334.1:c.380-17T>A	XP_011523636.1:n.380-17T>A
XM_011525335.1:c.380-17T>A	XP_011523637.1:n.380-17T>A
XM_011525336.1:c.380-17T>A	XP_011523638.1:n.380-17T>A
XM_011525337.1:c.380-17T>A	XP_011523639.1:n.380-17T>A
XM_011525338.1:c.25-2053T>A	XP_011523640.1:n.25-2053T>A
XM_011525339.1:c.380-17T>A	XP_011523641.1:n.380-17T>A
XM_011525340.1:c.380-17T>A	XP_011523642.1:n.380-17T>A
XM_011525341.1:c.380-17T>A	XP_011523643.1:n.380-17T>A
XM_011525332.3:c.380-17T>A	XP_011523634.1:n.380-17T>A
XM_011525333.3:c.380-17T>A	XP_011523635.1:n.380-17T>A
XM_011525334.2:c.380-17T>A	XP_011523636.1:n.380-17T>A
XM_011525335.3:c.380-17T>A	XP_011523637.1:n.380-17T>A
XM_011525336.2:c.380-17T>A	XP_011523638.1:n.380-17T>A
XM_011525337.2:c.380-17T>A	XP_011523639.1:n.380-17T>A
XM_011525338.2:c.25-2053T>A	XP_011523640.1:n.25-2053T>A
XM_011525339.3:c.380-17T>A	XP_011523641.1:n.380-17T>A
XM_011525340.3:c.380-17T>A	XP_011523642.1:n.380-17T>A
XM_011525341.3:c.380-17T>A	XP_011523643.1:n.380-17T>A
XM_017025200.1:c.25-2053T>A	XP_016880689.1:n.25-2053T>A
NM_032043.3:c.380-17T>A MANE Select	NP_114432.2:n.380-17T>A