Canonical Allele Identifier: CA400478837

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 461148
• ClinVar RCV Id: RCV000559311 ; RCV000569557 ; RCV002268145 ; RCV003459216
• dbSNP Id: rs786202549
• gnomAD v3: 17-61683658-T-C
• gnomAD v4: 17-61683658-T-C
• MyVariant Identifiers: chr17:g.59761019T>C (hg19) ; chr17:g.61683658T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683658T>C , CM000679.2:g.61683658T>C	GRCh38
NC_000017.10:g.59761019T>C , CM000679.1:g.59761019T>C	GRCh37
NC_000017.9:g.57115801T>C	NCBI36
NG_007409.2:g.184902A>G , LRG_300:g.184902A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2128A>G
ENST00000682453.1:c.3388A>G	ENSP00000506943.1:p.Ile1130Val
ENST00000682477.1:c.*2814A>G	ENSP00000507075.1:n.*2814A>G
ENST00000682589.1:n.9265A>G
ENST00000682755.1:c.3166A>G	ENSP00000507660.1:p.Ile1056Val
ENST00000682989.1:c.*479A>G	ENSP00000507786.1:n.*479A>G
ENST00000683039.1:c.3388A>G	ENSP00000508303.1:p.Ile1130Val
ENST00000683235.1:c.*803A>G	ENSP00000507646.1:n.*803A>G
ENST00000683535.1:n.1518A>G
ENST00000684584.1:c.2551A>G	ENSP00000508044.1:p.Ile851Val
ENST00000684626.1:n.1634A>G
ENST00000684769.1:c.1578A>G	ENSP00000507691.1:n.1578A>G
ENST00000259008.7:c.3388A>G MANE Select	ENSP00000259008.2:p.Ile1130Val
ENST00000259008.6:c.3388A>G	ENSP00000259008.2:p.Ile1130Val
NM_032043.2:c.3388A>G , LRG_300t1:c.3388A>G	NP_114432.2:p.Ile1130Val
XM_011525332.1:c.3448A>G	XP_011523634.1:p.Ile1150Val
XM_011525333.1:c.3448A>G	XP_011523635.1:p.Ile1150Val
XM_011525334.1:c.3448A>G	XP_011523636.1:p.Ile1150Val
XM_011525335.1:c.3388A>G	XP_011523637.1:p.Ile1130Val
XM_011525336.1:c.3328A>G	XP_011523638.1:p.Ile1110Val
XM_011525337.1:c.3247A>G	XP_011523639.1:p.Ile1083Val
XM_011525338.1:c.2965A>G	XP_011523640.1:p.Ile989Val
XM_011525332.3:c.3448A>G	XP_011523634.1:p.Ile1150Val
XM_011525333.3:c.3448A>G	XP_011523635.1:p.Ile1150Val
XM_011525334.2:c.3448A>G	XP_011523636.1:p.Ile1150Val
XM_011525335.3:c.3388A>G	XP_011523637.1:p.Ile1130Val
XM_011525336.2:c.3328A>G	XP_011523638.1:p.Ile1110Val
XM_011525337.2:c.3247A>G	XP_011523639.1:p.Ile1083Val
XM_011525338.2:c.2965A>G	XP_011523640.1:p.Ile989Val
XM_017025200.1:c.2905A>G	XP_016880689.1:p.Ile969Val
XM_017025201.1:c.2905A>G	XP_016880690.1:p.Ile969Val
XM_017025202.1:c.1534A>G	XP_016880691.1:p.Ile512Val
XM_017025203.1:c.1534A>G	XP_016880692.1:p.Ile512Val
NM_032043.3:c.3388A>G MANE Select	NP_114432.2:p.Ile1130Val