Canonical Allele Identifier: CA400478834

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 848802
• ClinVar RCV Id: RCV001052634 ; RCV002451215
• dbSNP Id: rs2061308845
• MyVariant Identifiers: chr17:g.59761017G>C (hg19) ; chr17:g.61683656G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683656G>C , CM000679.2:g.61683656G>C	GRCh38
NC_000017.10:g.59761017G>C , CM000679.1:g.59761017G>C	GRCh37
NC_000017.9:g.57115799G>C	NCBI36
NG_007409.2:g.184904C>G , LRG_300:g.184904C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2130C>G
ENST00000682453.1:c.3390C>G	ENSP00000506943.1:p.Ile1130Met
ENST00000682477.1:c.*2816C>G	ENSP00000507075.1:n.*2816C>G
ENST00000682589.1:n.9267C>G
ENST00000682755.1:c.3168C>G	ENSP00000507660.1:p.Ile1056Met
ENST00000682989.1:c.*481C>G	ENSP00000507786.1:n.*481C>G
ENST00000683039.1:c.3390C>G	ENSP00000508303.1:p.Ile1130Met
ENST00000683235.1:c.*805C>G	ENSP00000507646.1:n.*805C>G
ENST00000683535.1:n.1520C>G
ENST00000684584.1:c.2553C>G	ENSP00000508044.1:p.Ile851Met
ENST00000684626.1:n.1636C>G
ENST00000684769.1:c.1580C>G	ENSP00000507691.1:n.1580C>G
ENST00000259008.7:c.3390C>G MANE Select	ENSP00000259008.2:p.Ile1130Met
ENST00000259008.6:c.3390C>G	ENSP00000259008.2:p.Ile1130Met
NM_032043.2:c.3390C>G , LRG_300t1:c.3390C>G	NP_114432.2:p.Ile1130Met
XM_011525332.1:c.3450C>G	XP_011523634.1:p.Ile1150Met
XM_011525333.1:c.3450C>G	XP_011523635.1:p.Ile1150Met
XM_011525334.1:c.3450C>G	XP_011523636.1:p.Ile1150Met
XM_011525335.1:c.3390C>G	XP_011523637.1:p.Ile1130Met
XM_011525336.1:c.3330C>G	XP_011523638.1:p.Ile1110Met
XM_011525337.1:c.3249C>G	XP_011523639.1:p.Ile1083Met
XM_011525338.1:c.2967C>G	XP_011523640.1:p.Ile989Met
XM_011525332.3:c.3450C>G	XP_011523634.1:p.Ile1150Met
XM_011525333.3:c.3450C>G	XP_011523635.1:p.Ile1150Met
XM_011525334.2:c.3450C>G	XP_011523636.1:p.Ile1150Met
XM_011525335.3:c.3390C>G	XP_011523637.1:p.Ile1130Met
XM_011525336.2:c.3330C>G	XP_011523638.1:p.Ile1110Met
XM_011525337.2:c.3249C>G	XP_011523639.1:p.Ile1083Met
XM_011525338.2:c.2967C>G	XP_011523640.1:p.Ile989Met
XM_017025200.1:c.2907C>G	XP_016880689.1:p.Ile969Met
XM_017025201.1:c.2907C>G	XP_016880690.1:p.Ile969Met
XM_017025202.1:c.1536C>G	XP_016880691.1:p.Ile512Met
XM_017025203.1:c.1536C>G	XP_016880692.1:p.Ile512Met
NM_032043.3:c.3390C>G MANE Select	NP_114432.2:p.Ile1130Met