Canonical Allele Identifier: CA8690938

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 530366
• ClinVar RCV Id: RCV000636207 ; RCV000990038 ; RCV001185471 ; RCV001584468 ; RCV004526727
• dbSNP Id: rs780921390
• ExAC: 17:59926623 A / G
• gnomAD v4: 17-61849262-A-G
• MyVariant Identifiers: chr17:g.59926623A>G (hg19) ; chr17:g.61849262A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61849262A>G , CM000679.2:g.61849262A>G	GRCh38
NC_000017.10:g.59926623A>G , CM000679.1:g.59926623A>G	GRCh37
NC_000017.9:g.57281405A>G	NCBI36
NG_007409.2:g.19298T>C , LRG_300:g.19298T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000577913.2:c.380-6T>C	ENSP00000462274.2:n.380-6T>C
ENST00000584322.2:c.380-6T>C	ENSP00000463272.2:n.380-6T>C
ENST00000682369.1:c.380-6T>C	ENSP00000507450.1:n.380-6T>C
ENST00000682453.1:c.380-6T>C	ENSP00000506943.1:n.380-6T>C
ENST00000682477.1:c.380-6T>C	ENSP00000507075.1:n.380-6T>C
ENST00000682589.1:n.2121-6T>C
ENST00000682755.1:c.380-6T>C	ENSP00000507660.1:n.380-6T>C
ENST00000682989.1:c.380-6T>C	ENSP00000507786.1:n.380-6T>C
ENST00000683039.1:c.380-6T>C	ENSP00000508303.1:n.380-6T>C
ENST00000683235.1:c.380-6T>C	ENSP00000507646.1:n.380-6T>C
ENST00000683381.1:c.380-6T>C	ENSP00000508184.1:n.380-6T>C
ENST00000683672.1:c.83-2042T>C	ENSP00000506781.1:n.83-2042T>C
ENST00000259008.7:c.380-6T>C MANE Select	ENSP00000259008.2:n.380-6T>C
ENST00000259008.6:c.380-6T>C	ENSP00000259008.2:n.380-6T>C
ENST00000577598.5:c.380-6T>C	ENSP00000464654.1:n.380-6T>C
NM_032043.2:c.380-6T>C , LRG_300t1:c.380-6T>C	NP_114432.2:n.380-6T>C
XM_011525332.1:c.380-6T>C	XP_011523634.1:n.380-6T>C
XM_011525333.1:c.380-6T>C	XP_011523635.1:n.380-6T>C
XM_011525334.1:c.380-6T>C	XP_011523636.1:n.380-6T>C
XM_011525335.1:c.380-6T>C	XP_011523637.1:n.380-6T>C
XM_011525336.1:c.380-6T>C	XP_011523638.1:n.380-6T>C
XM_011525337.1:c.380-6T>C	XP_011523639.1:n.380-6T>C
XM_011525338.1:c.25-2042T>C	XP_011523640.1:n.25-2042T>C
XM_011525339.1:c.380-6T>C	XP_011523641.1:n.380-6T>C
XM_011525340.1:c.380-6T>C	XP_011523642.1:n.380-6T>C
XM_011525341.1:c.380-6T>C	XP_011523643.1:n.380-6T>C
XM_011525332.3:c.380-6T>C	XP_011523634.1:n.380-6T>C
XM_011525333.3:c.380-6T>C	XP_011523635.1:n.380-6T>C
XM_011525334.2:c.380-6T>C	XP_011523636.1:n.380-6T>C
XM_011525335.3:c.380-6T>C	XP_011523637.1:n.380-6T>C
XM_011525336.2:c.380-6T>C	XP_011523638.1:n.380-6T>C
XM_011525337.2:c.380-6T>C	XP_011523639.1:n.380-6T>C
XM_011525338.2:c.25-2042T>C	XP_011523640.1:n.25-2042T>C
XM_011525339.3:c.380-6T>C	XP_011523641.1:n.380-6T>C
XM_011525340.3:c.380-6T>C	XP_011523642.1:n.380-6T>C
XM_011525341.3:c.380-6T>C	XP_011523643.1:n.380-6T>C
XM_017025200.1:c.25-2042T>C	XP_016880689.1:n.25-2042T>C
NM_032043.3:c.380-6T>C MANE Select	NP_114432.2:n.380-6T>C