Canonical Allele Identifier: CA400478906

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2059395
• ClinVar RCV Id: RCV002933707
• dbSNP Id: rs1555572663
• MyVariant Identifiers: chr17:g.59761049C>G (hg19) ; chr17:g.61683688C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683688C>G , CM000679.2:g.61683688C>G	GRCh38
NC_000017.10:g.59761049C>G , CM000679.1:g.59761049C>G	GRCh37
NC_000017.9:g.57115831C>G	NCBI36
NG_007409.2:g.184872G>C , LRG_300:g.184872G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2098G>C
ENST00000682453.1:c.3358G>C	ENSP00000506943.1:p.Asp1120His
ENST00000682477.1:c.*2784G>C	ENSP00000507075.1:n.*2784G>C
ENST00000682589.1:n.9235G>C
ENST00000682755.1:c.3136G>C	ENSP00000507660.1:p.Asp1046His
ENST00000682989.1:c.*449G>C	ENSP00000507786.1:n.*449G>C
ENST00000683039.1:c.3358G>C	ENSP00000508303.1:p.Asp1120His
ENST00000683235.1:c.*773G>C	ENSP00000507646.1:n.*773G>C
ENST00000683535.1:n.1488G>C
ENST00000684584.1:c.2521G>C	ENSP00000508044.1:p.Asp841His
ENST00000684626.1:n.1604G>C
ENST00000684769.1:c.1548G>C	ENSP00000507691.1:n.1548G>C
ENST00000259008.7:c.3358G>C MANE Select	ENSP00000259008.2:p.Asp1120His
ENST00000259008.6:c.3358G>C	ENSP00000259008.2:p.Asp1120His
NM_032043.2:c.3358G>C , LRG_300t1:c.3358G>C	NP_114432.2:p.Asp1120His
XM_011525332.1:c.3418G>C	XP_011523634.1:p.Asp1140His
XM_011525333.1:c.3418G>C	XP_011523635.1:p.Asp1140His
XM_011525334.1:c.3418G>C	XP_011523636.1:p.Asp1140His
XM_011525335.1:c.3358G>C	XP_011523637.1:p.Asp1120His
XM_011525336.1:c.3298G>C	XP_011523638.1:p.Asp1100His
XM_011525337.1:c.3217G>C	XP_011523639.1:p.Asp1073His
XM_011525338.1:c.2935G>C	XP_011523640.1:p.Asp979His
XM_011525332.3:c.3418G>C	XP_011523634.1:p.Asp1140His
XM_011525333.3:c.3418G>C	XP_011523635.1:p.Asp1140His
XM_011525334.2:c.3418G>C	XP_011523636.1:p.Asp1140His
XM_011525335.3:c.3358G>C	XP_011523637.1:p.Asp1120His
XM_011525336.2:c.3298G>C	XP_011523638.1:p.Asp1100His
XM_011525337.2:c.3217G>C	XP_011523639.1:p.Asp1073His
XM_011525338.2:c.2935G>C	XP_011523640.1:p.Asp979His
XM_017025200.1:c.2875G>C	XP_016880689.1:p.Asp959His
XM_017025201.1:c.2875G>C	XP_016880690.1:p.Asp959His
XM_017025202.1:c.1504G>C	XP_016880691.1:p.Asp502His
XM_017025203.1:c.1504G>C	XP_016880692.1:p.Asp502His
NM_032043.3:c.3358G>C MANE Select	NP_114432.2:p.Asp1120His