Canonical Allele Identifier: CA289748

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 136581
• ClinVar RCV Id: RCV000124031 ; RCV000580838 ; RCV000990046 ; RCV001122188 ; RCV001689674
• dbSNP Id: rs370728413
• ExAC: 17:59938933 A / G
• gnomAD v2: 17-59938933-A-G
• gnomAD v3: 17-61861572-A-G
• gnomAD v4: 17-61861572-A-G
• MyVariant Identifiers: chr17:g.59938933A>G (hg19) ; chr17:g.61861572A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61861572A>G , CM000679.2:g.61861572A>G	GRCh38
NC_000017.10:g.59938933A>G , CM000679.1:g.59938933A>G	GRCh37
NC_000017.9:g.57293715A>G	NCBI36
NG_007409.2:g.6988T>C , LRG_300:g.6988T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000577913.2:c.-26-7T>C	ENSP00000462274.2:n.-26-7T>C
ENST00000584322.2:c.-30-3T>C	ENSP00000463272.2:n.-30-3T>C
ENST00000682369.1:c.-30-3T>C	ENSP00000507450.1:n.-30-3T>C
ENST00000682453.1:c.-30-3T>C	ENSP00000506943.1:n.-30-3T>C
ENST00000682477.1:c.-30-3T>C	ENSP00000507075.1:n.-30-3T>C
ENST00000682589.1:n.1709T>C
ENST00000682989.1:c.-26-7T>C	ENSP00000507786.1:n.-26-7T>C
ENST00000683039.1:c.-30-3T>C	ENSP00000508303.1:n.-30-3T>C
ENST00000683235.1:c.-26-7T>C	ENSP00000507646.1:n.-26-7T>C
ENST00000683381.1:c.-30-3T>C	ENSP00000508184.1:n.-30-3T>C
ENST00000683672.1:c.-93+1712T>C	ENSP00000506781.1:n.-93+1712T>C
ENST00000259008.7:c.-30-3T>C MANE Select	ENSP00000259008.2:n.-30-3T>C
ENST00000259008.6:c.-30-3T>C	ENSP00000259008.2:n.-30-3T>C
ENST00000577913.1:c.-30-3T>C	ENSP00000462274.1:n.-30-3T>C
NM_032043.2:c.-30-3T>C , LRG_300t1:c.-30-3T>C	NP_114432.2:n.-30-3T>C
XM_011525332.1:c.-30-3T>C	XP_011523634.1:n.-30-3T>C
XM_011525333.1:c.-26-7T>C	XP_011523635.1:n.-26-7T>C
XM_011525334.1:c.-30-3T>C	XP_011523636.1:n.-30-3T>C
XM_011525335.1:c.-30-3T>C	XP_011523637.1:n.-30-3T>C
XM_011525336.1:c.-30-3T>C	XP_011523638.1:n.-30-3T>C
XM_011525337.1:c.-30-3T>C	XP_011523639.1:n.-30-3T>C
XM_011525339.1:c.-30-3T>C	XP_011523641.1:n.-30-3T>C
XM_011525340.1:c.-30-3T>C	XP_011523642.1:n.-30-3T>C
XM_011525341.1:c.-30-3T>C	XP_011523643.1:n.-30-3T>C
XM_011525332.3:c.-30-3T>C	XP_011523634.1:n.-30-3T>C
XM_011525333.3:c.-26-7T>C	XP_011523635.1:n.-26-7T>C
XM_011525334.2:c.-30-3T>C	XP_011523636.1:n.-30-3T>C
XM_011525335.3:c.-30-3T>C	XP_011523637.1:n.-30-3T>C
XM_011525336.2:c.-30-3T>C	XP_011523638.1:n.-30-3T>C
XM_011525337.2:c.-30-3T>C	XP_011523639.1:n.-30-3T>C
XM_011525339.3:c.-30-3T>C	XP_011523641.1:n.-30-3T>C
XM_011525340.3:c.-30-3T>C	XP_011523642.1:n.-30-3T>C
XM_011525341.3:c.-30-3T>C	XP_011523643.1:n.-30-3T>C
NM_032043.3:c.-30-3T>C MANE Select	NP_114432.2:n.-30-3T>C