Canonical Allele Identifier: CA8690368

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 418644
• ClinVar RCV Id: RCV000478257 ; RCV000679784 ; RCV000811671 ; RCV001020106 ; RCV003463980
• dbSNP Id: rs754056526
• ExAC: 17:59761040 T / C
• gnomAD v2: 17-59761040-T-C
• gnomAD v4: 17-61683679-T-C
• MyVariant Identifiers: chr17:g.59761040T>C (hg19) ; chr17:g.61683679T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683679T>C , CM000679.2:g.61683679T>C	GRCh38
NC_000017.10:g.59761040T>C , CM000679.1:g.59761040T>C	GRCh37
NC_000017.9:g.57115822T>C	NCBI36
NG_007409.2:g.184881A>G , LRG_300:g.184881A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2107A>G
ENST00000682453.1:c.3367A>G	ENSP00000506943.1:p.Thr1123Ala
ENST00000682477.1:c.*2793A>G	ENSP00000507075.1:n.*2793A>G
ENST00000682589.1:n.9244A>G
ENST00000682755.1:c.3145A>G	ENSP00000507660.1:p.Thr1049Ala
ENST00000682989.1:c.*458A>G	ENSP00000507786.1:n.*458A>G
ENST00000683039.1:c.3367A>G	ENSP00000508303.1:p.Thr1123Ala
ENST00000683235.1:c.*782A>G	ENSP00000507646.1:n.*782A>G
ENST00000683535.1:n.1497A>G
ENST00000684584.1:c.2530A>G	ENSP00000508044.1:p.Thr844Ala
ENST00000684626.1:n.1613A>G
ENST00000684769.1:c.1557A>G	ENSP00000507691.1:n.1557A>G
ENST00000259008.7:c.3367A>G MANE Select	ENSP00000259008.2:p.Thr1123Ala
ENST00000259008.6:c.3367A>G	ENSP00000259008.2:p.Thr1123Ala
NM_032043.2:c.3367A>G , LRG_300t1:c.3367A>G	NP_114432.2:p.Thr1123Ala
XM_011525332.1:c.3427A>G	XP_011523634.1:p.Thr1143Ala
XM_011525333.1:c.3427A>G	XP_011523635.1:p.Thr1143Ala
XM_011525334.1:c.3427A>G	XP_011523636.1:p.Thr1143Ala
XM_011525335.1:c.3367A>G	XP_011523637.1:p.Thr1123Ala
XM_011525336.1:c.3307A>G	XP_011523638.1:p.Thr1103Ala
XM_011525337.1:c.3226A>G	XP_011523639.1:p.Thr1076Ala
XM_011525338.1:c.2944A>G	XP_011523640.1:p.Thr982Ala
XM_011525332.3:c.3427A>G	XP_011523634.1:p.Thr1143Ala
XM_011525333.3:c.3427A>G	XP_011523635.1:p.Thr1143Ala
XM_011525334.2:c.3427A>G	XP_011523636.1:p.Thr1143Ala
XM_011525335.3:c.3367A>G	XP_011523637.1:p.Thr1123Ala
XM_011525336.2:c.3307A>G	XP_011523638.1:p.Thr1103Ala
XM_011525337.2:c.3226A>G	XP_011523639.1:p.Thr1076Ala
XM_011525338.2:c.2944A>G	XP_011523640.1:p.Thr982Ala
XM_017025200.1:c.2884A>G	XP_016880689.1:p.Thr962Ala
XM_017025201.1:c.2884A>G	XP_016880690.1:p.Thr962Ala
XM_017025202.1:c.1513A>G	XP_016880691.1:p.Thr505Ala
XM_017025203.1:c.1513A>G	XP_016880692.1:p.Thr505Ala
NM_032043.3:c.3367A>G MANE Select	NP_114432.2:p.Thr1123Ala