Canonical Allele Identifier: CA400477772

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 506573
• ClinVar RCV Id: RCV000606452 ; RCV001860262
• dbSNP Id: rs587781819
• MyVariant Identifiers: chr17:g.59760697G>T (hg19) ; chr17:g.61683336G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683336G>T , CM000679.2:g.61683336G>T	GRCh38
NC_000017.10:g.59760697G>T , CM000679.1:g.59760697G>T	GRCh37
NC_000017.9:g.57115479G>T	NCBI36
NG_007409.2:g.185224C>A , LRG_300:g.185224C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2450C>A
ENST00000682453.1:c.3710C>A	ENSP00000506943.1:p.Ser1237Tyr
ENST00000682477.1:c.*3136C>A	ENSP00000507075.1:n.*3136C>A
ENST00000682589.1:n.9587C>A
ENST00000682755.1:c.3488C>A	ENSP00000507660.1:p.Ser1163Tyr
ENST00000682989.1:c.*801C>A	ENSP00000507786.1:n.*801C>A
ENST00000683039.1:c.3710C>A	ENSP00000508303.1:p.Ser1237Tyr
ENST00000683235.1:c.*1125C>A	ENSP00000507646.1:n.*1125C>A
ENST00000683535.1:n.1840C>A
ENST00000684584.1:c.2873C>A	ENSP00000508044.1:p.Ser958Tyr
ENST00000684626.1:n.1956C>A
ENST00000684769.1:c.1900C>A	ENSP00000507691.1:n.1900C>A
ENST00000259008.7:c.3710C>A MANE Select	ENSP00000259008.2:p.Ser1237Tyr
ENST00000259008.6:c.3710C>A	ENSP00000259008.2:p.Ser1237Tyr
NM_032043.2:c.3710C>A , LRG_300t1:c.3710C>A	NP_114432.2:p.Ser1237Tyr
XM_011525332.1:c.3770C>A	XP_011523634.1:p.Ser1257Tyr
XM_011525333.1:c.3770C>A	XP_011523635.1:p.Ser1257Tyr
XM_011525334.1:c.3770C>A	XP_011523636.1:p.Ser1257Tyr
XM_011525335.1:c.3710C>A	XP_011523637.1:p.Ser1237Tyr
XM_011525336.1:c.3650C>A	XP_011523638.1:p.Ser1217Tyr
XM_011525337.1:c.3569C>A	XP_011523639.1:p.Ser1190Tyr
XM_011525338.1:c.3287C>A	XP_011523640.1:p.Ser1096Tyr
XM_011525332.3:c.3770C>A	XP_011523634.1:p.Ser1257Tyr
XM_011525333.3:c.3770C>A	XP_011523635.1:p.Ser1257Tyr
XM_011525334.2:c.3770C>A	XP_011523636.1:p.Ser1257Tyr
XM_011525335.3:c.3710C>A	XP_011523637.1:p.Ser1237Tyr
XM_011525336.2:c.3650C>A	XP_011523638.1:p.Ser1217Tyr
XM_011525337.2:c.3569C>A	XP_011523639.1:p.Ser1190Tyr
XM_011525338.2:c.3287C>A	XP_011523640.1:p.Ser1096Tyr
XM_017025200.1:c.3227C>A	XP_016880689.1:p.Ser1076Tyr
XM_017025201.1:c.3227C>A	XP_016880690.1:p.Ser1076Tyr
XM_017025202.1:c.1856C>A	XP_016880691.1:p.Ser619Tyr
XM_017025203.1:c.1856C>A	XP_016880692.1:p.Ser619Tyr
NM_032043.3:c.3710C>A MANE Select	NP_114432.2:p.Ser1237Tyr