Canonical Allele Identifier: CA400478571

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 950378
• ClinVar RCV Id: RCV001222073
• dbSNP Id: rs2061304985
• MyVariant Identifiers: chr17:g.59760919T>C (hg19) ; chr17:g.61683558T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683558T>C , CM000679.2:g.61683558T>C	GRCh38
NC_000017.10:g.59760919T>C , CM000679.1:g.59760919T>C	GRCh37
NC_000017.9:g.57115701T>C	NCBI36
NG_007409.2:g.185002A>G , LRG_300:g.185002A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2228A>G
ENST00000682453.1:c.3488A>G	ENSP00000506943.1:p.Asp1163Gly
ENST00000682477.1:c.*2914A>G	ENSP00000507075.1:n.*2914A>G
ENST00000682589.1:n.9365A>G
ENST00000682755.1:c.3266A>G	ENSP00000507660.1:p.Asp1089Gly
ENST00000682989.1:c.*579A>G	ENSP00000507786.1:n.*579A>G
ENST00000683039.1:c.3488A>G	ENSP00000508303.1:p.Asp1163Gly
ENST00000683235.1:c.*903A>G	ENSP00000507646.1:n.*903A>G
ENST00000683535.1:n.1618A>G
ENST00000684584.1:c.2651A>G	ENSP00000508044.1:p.Asp884Gly
ENST00000684626.1:n.1734A>G
ENST00000684769.1:c.1678A>G	ENSP00000507691.1:n.1678A>G
ENST00000259008.7:c.3488A>G MANE Select	ENSP00000259008.2:p.Asp1163Gly
ENST00000259008.6:c.3488A>G	ENSP00000259008.2:p.Asp1163Gly
NM_032043.2:c.3488A>G , LRG_300t1:c.3488A>G	NP_114432.2:p.Asp1163Gly
XM_011525332.1:c.3548A>G	XP_011523634.1:p.Asp1183Gly
XM_011525333.1:c.3548A>G	XP_011523635.1:p.Asp1183Gly
XM_011525334.1:c.3548A>G	XP_011523636.1:p.Asp1183Gly
XM_011525335.1:c.3488A>G	XP_011523637.1:p.Asp1163Gly
XM_011525336.1:c.3428A>G	XP_011523638.1:p.Asp1143Gly
XM_011525337.1:c.3347A>G	XP_011523639.1:p.Asp1116Gly
XM_011525338.1:c.3065A>G	XP_011523640.1:p.Asp1022Gly
XM_011525332.3:c.3548A>G	XP_011523634.1:p.Asp1183Gly
XM_011525333.3:c.3548A>G	XP_011523635.1:p.Asp1183Gly
XM_011525334.2:c.3548A>G	XP_011523636.1:p.Asp1183Gly
XM_011525335.3:c.3488A>G	XP_011523637.1:p.Asp1163Gly
XM_011525336.2:c.3428A>G	XP_011523638.1:p.Asp1143Gly
XM_011525337.2:c.3347A>G	XP_011523639.1:p.Asp1116Gly
XM_011525338.2:c.3065A>G	XP_011523640.1:p.Asp1022Gly
XM_017025200.1:c.3005A>G	XP_016880689.1:p.Asp1002Gly
XM_017025201.1:c.3005A>G	XP_016880690.1:p.Asp1002Gly
XM_017025202.1:c.1634A>G	XP_016880691.1:p.Asp545Gly
XM_017025203.1:c.1634A>G	XP_016880692.1:p.Asp545Gly
NM_032043.3:c.3488A>G MANE Select	NP_114432.2:p.Asp1163Gly