Canonical Allele Identifier: CA400480639

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2921331
• ClinVar RCV Id: RCV003779418
• dbSNP Id: rs1603275650
• MyVariant Identifiers: chr17:g.59761437G>C (hg19) ; chr17:g.61684076G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61684076G>C , CM000679.2:g.61684076G>C	GRCh38
NC_000017.10:g.59761437G>C , CM000679.1:g.59761437G>C	GRCh37
NC_000017.9:g.57116219G>C	NCBI36
NG_007409.2:g.184484C>G , LRG_300:g.184484C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1710C>G
ENST00000682453.1:c.2970C>G	ENSP00000506943.1:p.Ser990Arg
ENST00000682477.1:c.*2396C>G	ENSP00000507075.1:n.*2396C>G
ENST00000682589.1:n.8847C>G
ENST00000682755.1:c.2748C>G	ENSP00000507660.1:p.Ser916Arg
ENST00000682989.1:c.*61C>G	ENSP00000507786.1:n.*61C>G
ENST00000683039.1:c.2970C>G	ENSP00000508303.1:p.Ser990Arg
ENST00000683235.1:c.*385C>G	ENSP00000507646.1:n.*385C>G
ENST00000683535.1:n.1100C>G
ENST00000684584.1:c.2133C>G	ENSP00000508044.1:p.Ser711Arg
ENST00000684626.1:n.1216C>G
ENST00000684769.1:c.1160C>G	ENSP00000507691.1:n.1160C>G
ENST00000259008.7:c.2970C>G MANE Select	ENSP00000259008.2:p.Ser990Arg
ENST00000259008.6:c.2970C>G	ENSP00000259008.2:p.Ser990Arg
NM_032043.2:c.2970C>G , LRG_300t1:c.2970C>G	NP_114432.2:p.Ser990Arg
XM_011525332.1:c.3030C>G	XP_011523634.1:p.Ser1010Arg
XM_011525333.1:c.3030C>G	XP_011523635.1:p.Ser1010Arg
XM_011525334.1:c.3030C>G	XP_011523636.1:p.Ser1010Arg
XM_011525335.1:c.2970C>G	XP_011523637.1:p.Ser990Arg
XM_011525336.1:c.2910C>G	XP_011523638.1:p.Ser970Arg
XM_011525337.1:c.2829C>G	XP_011523639.1:p.Ser943Arg
XM_011525338.1:c.2547C>G	XP_011523640.1:p.Ser849Arg
XM_011525332.3:c.3030C>G	XP_011523634.1:p.Ser1010Arg
XM_011525333.3:c.3030C>G	XP_011523635.1:p.Ser1010Arg
XM_011525334.2:c.3030C>G	XP_011523636.1:p.Ser1010Arg
XM_011525335.3:c.2970C>G	XP_011523637.1:p.Ser990Arg
XM_011525336.2:c.2910C>G	XP_011523638.1:p.Ser970Arg
XM_011525337.2:c.2829C>G	XP_011523639.1:p.Ser943Arg
XM_011525338.2:c.2547C>G	XP_011523640.1:p.Ser849Arg
XM_017025200.1:c.2487C>G	XP_016880689.1:p.Ser829Arg
XM_017025201.1:c.2487C>G	XP_016880690.1:p.Ser829Arg
XM_017025202.1:c.1116C>G	XP_016880691.1:p.Ser372Arg
XM_017025203.1:c.1116C>G	XP_016880692.1:p.Ser372Arg
NM_032043.3:c.2970C>G MANE Select	NP_114432.2:p.Ser990Arg