Canonical Allele Identifier: CA501335473

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 530368
• ClinVar RCV Id: RCV000758997 ; RCV001089360 ; RCV001184524 ; RCV003945603
• dbSNP Id: rs61754142
• gnomAD v2: 17-59761338-G-C
• gnomAD v3: 17-61683977-G-C
• gnomAD v4: 17-61683977-G-C
• MyVariant Identifiers: chr17:g.59761338G>C (hg19) ; chr17:g.61683977G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683977G>C , CM000679.2:g.61683977G>C	GRCh38
NC_000017.10:g.59761338G>C , CM000679.1:g.59761338G>C	GRCh37
NC_000017.9:g.57116120G>C	NCBI36
NG_007409.2:g.184583C>G , LRG_300:g.184583C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682073.1:n.1809C>G
ENST00000682453.1:c.3069C>G	ENSP00000506943.1:p.Leu1023=
ENST00000682477.1:c.*2495C>G	ENSP00000507075.1:n.*2495C>G
ENST00000682589.1:n.8946C>G
ENST00000682755.1:c.2847C>G	ENSP00000507660.1:p.Leu949=
ENST00000682989.1:c.*160C>G	ENSP00000507786.1:n.*160C>G
ENST00000683039.1:c.3069C>G	ENSP00000508303.1:p.Leu1023=
ENST00000683235.1:c.*484C>G	ENSP00000507646.1:n.*484C>G
ENST00000683535.1:n.1199C>G
ENST00000684584.1:c.2232C>G	ENSP00000508044.1:p.Leu744=
ENST00000684626.1:n.1315C>G
ENST00000684769.1:c.1259C>G	ENSP00000507691.1:n.1259C>G
ENST00000259008.7:c.3069C>G MANE Select	ENSP00000259008.2:p.Leu1023=
ENST00000259008.6:c.3069C>G	ENSP00000259008.2:p.Leu1023=
NM_032043.2:c.3069C>G , LRG_300t1:c.3069C>G	NP_114432.2:p.Leu1023=
XM_011525332.1:c.3129C>G	XP_011523634.1:p.Leu1043=
XM_011525333.1:c.3129C>G	XP_011523635.1:p.Leu1043=
XM_011525334.1:c.3129C>G	XP_011523636.1:p.Leu1043=
XM_011525335.1:c.3069C>G	XP_011523637.1:p.Leu1023=
XM_011525336.1:c.3009C>G	XP_011523638.1:p.Leu1003=
XM_011525337.1:c.2928C>G	XP_011523639.1:p.Leu976=
XM_011525338.1:c.2646C>G	XP_011523640.1:p.Leu882=
XM_011525332.3:c.3129C>G	XP_011523634.1:p.Leu1043=
XM_011525333.3:c.3129C>G	XP_011523635.1:p.Leu1043=
XM_011525334.2:c.3129C>G	XP_011523636.1:p.Leu1043=
XM_011525335.3:c.3069C>G	XP_011523637.1:p.Leu1023=
XM_011525336.2:c.3009C>G	XP_011523638.1:p.Leu1003=
XM_011525337.2:c.2928C>G	XP_011523639.1:p.Leu976=
XM_011525338.2:c.2646C>G	XP_011523640.1:p.Leu882=
XM_017025200.1:c.2586C>G	XP_016880689.1:p.Leu862=
XM_017025201.1:c.2586C>G	XP_016880690.1:p.Leu862=
XM_017025202.1:c.1215C>G	XP_016880691.1:p.Leu405=
XM_017025203.1:c.1215C>G	XP_016880692.1:p.Leu405=
NM_032043.3:c.3069C>G MANE Select	NP_114432.2:p.Leu1023=