Canonical Allele Identifier: CA8690386

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 630231
• ClinVar RCV Id: RCV000775408 ; RCV001339492 ; RCV004527776
• dbSNP Id: rs756074244
• ExAC: 17:59761193 T / C
• gnomAD v2: 17-59761193-T-C
• gnomAD v4: 17-61683832-T-C
• MyVariant Identifiers: chr17:g.59761193T>C (hg19) ; chr17:g.61683832T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683832T>C , CM000679.2:g.61683832T>C	GRCh38
NC_000017.10:g.59761193T>C , CM000679.1:g.59761193T>C	GRCh37
NC_000017.9:g.57115975T>C	NCBI36
NG_007409.2:g.184728A>G , LRG_300:g.184728A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1954A>G
ENST00000682453.1:c.3214A>G	ENSP00000506943.1:p.Thr1072Ala
ENST00000682477.1:c.*2640A>G	ENSP00000507075.1:n.*2640A>G
ENST00000682589.1:n.9091A>G
ENST00000682755.1:c.2992A>G	ENSP00000507660.1:p.Thr998Ala
ENST00000682989.1:c.*305A>G	ENSP00000507786.1:n.*305A>G
ENST00000683039.1:c.3214A>G	ENSP00000508303.1:p.Thr1072Ala
ENST00000683235.1:c.*629A>G	ENSP00000507646.1:n.*629A>G
ENST00000683535.1:n.1344A>G
ENST00000684584.1:c.2377A>G	ENSP00000508044.1:p.Thr793Ala
ENST00000684626.1:n.1460A>G
ENST00000684769.1:c.1404A>G	ENSP00000507691.1:n.1404A>G
ENST00000259008.7:c.3214A>G MANE Select	ENSP00000259008.2:p.Thr1072Ala
ENST00000259008.6:c.3214A>G	ENSP00000259008.2:p.Thr1072Ala
NM_032043.2:c.3214A>G , LRG_300t1:c.3214A>G	NP_114432.2:p.Thr1072Ala
XM_011525332.1:c.3274A>G	XP_011523634.1:p.Thr1092Ala
XM_011525333.1:c.3274A>G	XP_011523635.1:p.Thr1092Ala
XM_011525334.1:c.3274A>G	XP_011523636.1:p.Thr1092Ala
XM_011525335.1:c.3214A>G	XP_011523637.1:p.Thr1072Ala
XM_011525336.1:c.3154A>G	XP_011523638.1:p.Thr1052Ala
XM_011525337.1:c.3073A>G	XP_011523639.1:p.Thr1025Ala
XM_011525338.1:c.2791A>G	XP_011523640.1:p.Thr931Ala
XM_011525332.3:c.3274A>G	XP_011523634.1:p.Thr1092Ala
XM_011525333.3:c.3274A>G	XP_011523635.1:p.Thr1092Ala
XM_011525334.2:c.3274A>G	XP_011523636.1:p.Thr1092Ala
XM_011525335.3:c.3214A>G	XP_011523637.1:p.Thr1072Ala
XM_011525336.2:c.3154A>G	XP_011523638.1:p.Thr1052Ala
XM_011525337.2:c.3073A>G	XP_011523639.1:p.Thr1025Ala
XM_011525338.2:c.2791A>G	XP_011523640.1:p.Thr931Ala
XM_017025200.1:c.2731A>G	XP_016880689.1:p.Thr911Ala
XM_017025201.1:c.2731A>G	XP_016880690.1:p.Thr911Ala
XM_017025202.1:c.1360A>G	XP_016880691.1:p.Thr454Ala
XM_017025203.1:c.1360A>G	XP_016880692.1:p.Thr454Ala
NM_032043.3:c.3214A>G MANE Select	NP_114432.2:p.Thr1072Ala