Canonical Allele Identifier: CA400479357

Gene: BRIP1

Linked Data

• dbSNP Id: rs1567728809
• gnomAD v4: 17-61683849-G-C
• MyVariant Identifiers: chr17:g.59761210G>C (hg19) ; chr17:g.61683849G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683849G>C , CM000679.2:g.61683849G>C	GRCh38
NC_000017.10:g.59761210G>C , CM000679.1:g.59761210G>C	GRCh37
NC_000017.9:g.57115992G>C	NCBI36
NG_007409.2:g.184711C>G , LRG_300:g.184711C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1937C>G
ENST00000682453.1:c.3197C>G	ENSP00000506943.1:p.Ser1066Ter
ENST00000682477.1:c.*2623C>G	ENSP00000507075.1:n.*2623C>G
ENST00000682589.1:n.9074C>G
ENST00000682755.1:c.2975C>G	ENSP00000507660.1:p.Ser992Ter
ENST00000682989.1:c.*288C>G	ENSP00000507786.1:n.*288C>G
ENST00000683039.1:c.3197C>G	ENSP00000508303.1:p.Ser1066Ter
ENST00000683235.1:c.*612C>G	ENSP00000507646.1:n.*612C>G
ENST00000683535.1:n.1327C>G
ENST00000684584.1:c.2360C>G	ENSP00000508044.1:p.Ser787Ter
ENST00000684626.1:n.1443C>G
ENST00000684769.1:c.1387C>G	ENSP00000507691.1:n.1387C>G
ENST00000259008.7:c.3197C>G MANE Select	ENSP00000259008.2:p.Ser1066Ter
ENST00000259008.6:c.3197C>G	ENSP00000259008.2:p.Ser1066Ter
NM_032043.2:c.3197C>G , LRG_300t1:c.3197C>G	NP_114432.2:p.Ser1066Ter
XM_011525332.1:c.3257C>G	XP_011523634.1:p.Ser1086Ter
XM_011525333.1:c.3257C>G	XP_011523635.1:p.Ser1086Ter
XM_011525334.1:c.3257C>G	XP_011523636.1:p.Ser1086Ter
XM_011525335.1:c.3197C>G	XP_011523637.1:p.Ser1066Ter
XM_011525336.1:c.3137C>G	XP_011523638.1:p.Ser1046Ter
XM_011525337.1:c.3056C>G	XP_011523639.1:p.Ser1019Ter
XM_011525338.1:c.2774C>G	XP_011523640.1:p.Ser925Ter
XM_011525332.3:c.3257C>G	XP_011523634.1:p.Ser1086Ter
XM_011525333.3:c.3257C>G	XP_011523635.1:p.Ser1086Ter
XM_011525334.2:c.3257C>G	XP_011523636.1:p.Ser1086Ter
XM_011525335.3:c.3197C>G	XP_011523637.1:p.Ser1066Ter
XM_011525336.2:c.3137C>G	XP_011523638.1:p.Ser1046Ter
XM_011525337.2:c.3056C>G	XP_011523639.1:p.Ser1019Ter
XM_011525338.2:c.2774C>G	XP_011523640.1:p.Ser925Ter
XM_017025200.1:c.2714C>G	XP_016880689.1:p.Ser905Ter
XM_017025201.1:c.2714C>G	XP_016880690.1:p.Ser905Ter
XM_017025202.1:c.1343C>G	XP_016880691.1:p.Ser448Ter
XM_017025203.1:c.1343C>G	XP_016880692.1:p.Ser448Ter
NM_032043.3:c.3197C>G MANE Select	NP_114432.2:p.Ser1066Ter