Canonical Allele Identifier: CA8690354

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 571344
• ClinVar RCV Id: RCV000692471 ; RCV001020526 ; RCV003325213
• dbSNP Id: rs756313788
• ExAC: 17:59760878 T / G
• gnomAD v2: 17-59760878-T-G
• gnomAD v3: 17-61683517-T-G
• gnomAD v4: 17-61683517-T-G
• MyVariant Identifiers: chr17:g.59760878T>G (hg19) ; chr17:g.61683517T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683517T>G , CM000679.2:g.61683517T>G	GRCh38
NC_000017.10:g.59760878T>G , CM000679.1:g.59760878T>G	GRCh37
NC_000017.9:g.57115660T>G	NCBI36
NG_007409.2:g.185043A>C , LRG_300:g.185043A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2269A>C
ENST00000682453.1:c.3529A>C	ENSP00000506943.1:p.Lys1177Gln
ENST00000682477.1:c.*2955A>C	ENSP00000507075.1:n.*2955A>C
ENST00000682589.1:n.9406A>C
ENST00000682755.1:c.3307A>C	ENSP00000507660.1:p.Lys1103Gln
ENST00000682989.1:c.*620A>C	ENSP00000507786.1:n.*620A>C
ENST00000683039.1:c.3529A>C	ENSP00000508303.1:p.Lys1177Gln
ENST00000683235.1:c.*944A>C	ENSP00000507646.1:n.*944A>C
ENST00000683535.1:n.1659A>C
ENST00000684584.1:c.2692A>C	ENSP00000508044.1:p.Lys898Gln
ENST00000684626.1:n.1775A>C
ENST00000684769.1:c.1719A>C	ENSP00000507691.1:n.1719A>C
ENST00000259008.7:c.3529A>C MANE Select	ENSP00000259008.2:p.Lys1177Gln
ENST00000259008.6:c.3529A>C	ENSP00000259008.2:p.Lys1177Gln
NM_032043.2:c.3529A>C , LRG_300t1:c.3529A>C	NP_114432.2:p.Lys1177Gln
XM_011525332.1:c.3589A>C	XP_011523634.1:p.Lys1197Gln
XM_011525333.1:c.3589A>C	XP_011523635.1:p.Lys1197Gln
XM_011525334.1:c.3589A>C	XP_011523636.1:p.Lys1197Gln
XM_011525335.1:c.3529A>C	XP_011523637.1:p.Lys1177Gln
XM_011525336.1:c.3469A>C	XP_011523638.1:p.Lys1157Gln
XM_011525337.1:c.3388A>C	XP_011523639.1:p.Lys1130Gln
XM_011525338.1:c.3106A>C	XP_011523640.1:p.Lys1036Gln
XM_011525332.3:c.3589A>C	XP_011523634.1:p.Lys1197Gln
XM_011525333.3:c.3589A>C	XP_011523635.1:p.Lys1197Gln
XM_011525334.2:c.3589A>C	XP_011523636.1:p.Lys1197Gln
XM_011525335.3:c.3529A>C	XP_011523637.1:p.Lys1177Gln
XM_011525336.2:c.3469A>C	XP_011523638.1:p.Lys1157Gln
XM_011525337.2:c.3388A>C	XP_011523639.1:p.Lys1130Gln
XM_011525338.2:c.3106A>C	XP_011523640.1:p.Lys1036Gln
XM_017025200.1:c.3046A>C	XP_016880689.1:p.Lys1016Gln
XM_017025201.1:c.3046A>C	XP_016880690.1:p.Lys1016Gln
XM_017025202.1:c.1675A>C	XP_016880691.1:p.Lys559Gln
XM_017025203.1:c.1675A>C	XP_016880692.1:p.Lys559Gln
NM_032043.3:c.3529A>C MANE Select	NP_114432.2:p.Lys1177Gln