Canonical Allele Identifier: CA8690370

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 823531
• ClinVar RCV Id: RCV001019846
• dbSNP Id: rs781102464
• ExAC: 17:59761099 A / G
• gnomAD v2: 17-59761099-A-G
• gnomAD v4: 17-61683738-A-G
• MyVariant Identifiers: chr17:g.59761099A>G (hg19) ; chr17:g.61683738A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683738A>G , CM000679.2:g.61683738A>G	GRCh38
NC_000017.10:g.59761099A>G , CM000679.1:g.59761099A>G	GRCh37
NC_000017.9:g.57115881A>G	NCBI36
NG_007409.2:g.184822T>C , LRG_300:g.184822T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2048T>C
ENST00000682453.1:c.3308T>C	ENSP00000506943.1:p.Ile1103Thr
ENST00000682477.1:c.*2734T>C	ENSP00000507075.1:n.*2734T>C
ENST00000682589.1:n.9185T>C
ENST00000682755.1:c.3086T>C	ENSP00000507660.1:p.Ile1029Thr
ENST00000682989.1:c.*399T>C	ENSP00000507786.1:n.*399T>C
ENST00000683039.1:c.3308T>C	ENSP00000508303.1:p.Ile1103Thr
ENST00000683235.1:c.*723T>C	ENSP00000507646.1:n.*723T>C
ENST00000683535.1:n.1438T>C
ENST00000684584.1:c.2471T>C	ENSP00000508044.1:p.Ile824Thr
ENST00000684626.1:n.1554T>C
ENST00000684769.1:c.1498T>C	ENSP00000507691.1:n.1498T>C
ENST00000259008.7:c.3308T>C MANE Select	ENSP00000259008.2:p.Ile1103Thr
ENST00000259008.6:c.3308T>C	ENSP00000259008.2:p.Ile1103Thr
NM_032043.2:c.3308T>C , LRG_300t1:c.3308T>C	NP_114432.2:p.Ile1103Thr
XM_011525332.1:c.3368T>C	XP_011523634.1:p.Ile1123Thr
XM_011525333.1:c.3368T>C	XP_011523635.1:p.Ile1123Thr
XM_011525334.1:c.3368T>C	XP_011523636.1:p.Ile1123Thr
XM_011525335.1:c.3308T>C	XP_011523637.1:p.Ile1103Thr
XM_011525336.1:c.3248T>C	XP_011523638.1:p.Ile1083Thr
XM_011525337.1:c.3167T>C	XP_011523639.1:p.Ile1056Thr
XM_011525338.1:c.2885T>C	XP_011523640.1:p.Ile962Thr
XM_011525332.3:c.3368T>C	XP_011523634.1:p.Ile1123Thr
XM_011525333.3:c.3368T>C	XP_011523635.1:p.Ile1123Thr
XM_011525334.2:c.3368T>C	XP_011523636.1:p.Ile1123Thr
XM_011525335.3:c.3308T>C	XP_011523637.1:p.Ile1103Thr
XM_011525336.2:c.3248T>C	XP_011523638.1:p.Ile1083Thr
XM_011525337.2:c.3167T>C	XP_011523639.1:p.Ile1056Thr
XM_011525338.2:c.2885T>C	XP_011523640.1:p.Ile962Thr
XM_017025200.1:c.2825T>C	XP_016880689.1:p.Ile942Thr
XM_017025201.1:c.2825T>C	XP_016880690.1:p.Ile942Thr
XM_017025202.1:c.1454T>C	XP_016880691.1:p.Ile485Thr
XM_017025203.1:c.1454T>C	XP_016880692.1:p.Ile485Thr
NM_032043.3:c.3308T>C MANE Select	NP_114432.2:p.Ile1103Thr