Canonical Allele Identifier: CA400478933

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 483208
• ClinVar RCV Id: RCV000562325 ; RCV000636178 ; RCV001194753
• dbSNP Id: rs1419933310
• MyVariant Identifiers: chr17:g.59761063G>C (hg19) ; chr17:g.61683702G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683702G>C , CM000679.2:g.61683702G>C	GRCh38
NC_000017.10:g.59761063G>C , CM000679.1:g.59761063G>C	GRCh37
NC_000017.9:g.57115845G>C	NCBI36
NG_007409.2:g.184858C>G , LRG_300:g.184858C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2084C>G
ENST00000682453.1:c.3344C>G	ENSP00000506943.1:p.Ser1115Cys
ENST00000682477.1:c.*2770C>G	ENSP00000507075.1:n.*2770C>G
ENST00000682589.1:n.9221C>G
ENST00000682755.1:c.3122C>G	ENSP00000507660.1:p.Ser1041Cys
ENST00000682989.1:c.*435C>G	ENSP00000507786.1:n.*435C>G
ENST00000683039.1:c.3344C>G	ENSP00000508303.1:p.Ser1115Cys
ENST00000683235.1:c.*759C>G	ENSP00000507646.1:n.*759C>G
ENST00000683535.1:n.1474C>G
ENST00000684584.1:c.2507C>G	ENSP00000508044.1:p.Ser836Cys
ENST00000684626.1:n.1590C>G
ENST00000684769.1:c.1534C>G	ENSP00000507691.1:n.1534C>G
ENST00000259008.7:c.3344C>G MANE Select	ENSP00000259008.2:p.Ser1115Cys
ENST00000259008.6:c.3344C>G	ENSP00000259008.2:p.Ser1115Cys
NM_032043.2:c.3344C>G , LRG_300t1:c.3344C>G	NP_114432.2:p.Ser1115Cys
XM_011525332.1:c.3404C>G	XP_011523634.1:p.Ser1135Cys
XM_011525333.1:c.3404C>G	XP_011523635.1:p.Ser1135Cys
XM_011525334.1:c.3404C>G	XP_011523636.1:p.Ser1135Cys
XM_011525335.1:c.3344C>G	XP_011523637.1:p.Ser1115Cys
XM_011525336.1:c.3284C>G	XP_011523638.1:p.Ser1095Cys
XM_011525337.1:c.3203C>G	XP_011523639.1:p.Ser1068Cys
XM_011525338.1:c.2921C>G	XP_011523640.1:p.Ser974Cys
XM_011525332.3:c.3404C>G	XP_011523634.1:p.Ser1135Cys
XM_011525333.3:c.3404C>G	XP_011523635.1:p.Ser1135Cys
XM_011525334.2:c.3404C>G	XP_011523636.1:p.Ser1135Cys
XM_011525335.3:c.3344C>G	XP_011523637.1:p.Ser1115Cys
XM_011525336.2:c.3284C>G	XP_011523638.1:p.Ser1095Cys
XM_011525337.2:c.3203C>G	XP_011523639.1:p.Ser1068Cys
XM_011525338.2:c.2921C>G	XP_011523640.1:p.Ser974Cys
XM_017025200.1:c.2861C>G	XP_016880689.1:p.Ser954Cys
XM_017025201.1:c.2861C>G	XP_016880690.1:p.Ser954Cys
XM_017025202.1:c.1490C>G	XP_016880691.1:p.Ser497Cys
XM_017025203.1:c.1490C>G	XP_016880692.1:p.Ser497Cys
NM_032043.3:c.3344C>G MANE Select	NP_114432.2:p.Ser1115Cys