Canonical Allele Identifier: CA168724

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 142568
• ClinVar RCV Id: RCV000131766 ; RCV000706879 ; RCV001030463
• dbSNP Id: rs587782552
• gnomAD v4: 17-61683538-G-C
• MyVariant Identifiers: chr17:g.59760899G>C (hg19) ; chr17:g.61683538G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683538G>C , CM000679.2:g.61683538G>C	GRCh38
NC_000017.10:g.59760899G>C , CM000679.1:g.59760899G>C	GRCh37
NC_000017.9:g.57115681G>C	NCBI36
NG_007409.2:g.185022C>G , LRG_300:g.185022C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2248C>G
ENST00000682453.1:c.3508C>G	ENSP00000506943.1:p.Leu1170Val
ENST00000682477.1:c.*2934C>G	ENSP00000507075.1:n.*2934C>G
ENST00000682589.1:n.9385C>G
ENST00000682755.1:c.3286C>G	ENSP00000507660.1:p.Leu1096Val
ENST00000682989.1:c.*599C>G	ENSP00000507786.1:n.*599C>G
ENST00000683039.1:c.3508C>G	ENSP00000508303.1:p.Leu1170Val
ENST00000683235.1:c.*923C>G	ENSP00000507646.1:n.*923C>G
ENST00000683535.1:n.1638C>G
ENST00000684584.1:c.2671C>G	ENSP00000508044.1:p.Leu891Val
ENST00000684626.1:n.1754C>G
ENST00000684769.1:c.1698C>G	ENSP00000507691.1:n.1698C>G
ENST00000259008.7:c.3508C>G MANE Select	ENSP00000259008.2:p.Leu1170Val
ENST00000259008.6:c.3508C>G	ENSP00000259008.2:p.Leu1170Val
NM_032043.2:c.3508C>G , LRG_300t1:c.3508C>G	NP_114432.2:p.Leu1170Val
XM_011525332.1:c.3568C>G	XP_011523634.1:p.Leu1190Val
XM_011525333.1:c.3568C>G	XP_011523635.1:p.Leu1190Val
XM_011525334.1:c.3568C>G	XP_011523636.1:p.Leu1190Val
XM_011525335.1:c.3508C>G	XP_011523637.1:p.Leu1170Val
XM_011525336.1:c.3448C>G	XP_011523638.1:p.Leu1150Val
XM_011525337.1:c.3367C>G	XP_011523639.1:p.Leu1123Val
XM_011525338.1:c.3085C>G	XP_011523640.1:p.Leu1029Val
XM_011525332.3:c.3568C>G	XP_011523634.1:p.Leu1190Val
XM_011525333.3:c.3568C>G	XP_011523635.1:p.Leu1190Val
XM_011525334.2:c.3568C>G	XP_011523636.1:p.Leu1190Val
XM_011525335.3:c.3508C>G	XP_011523637.1:p.Leu1170Val
XM_011525336.2:c.3448C>G	XP_011523638.1:p.Leu1150Val
XM_011525337.2:c.3367C>G	XP_011523639.1:p.Leu1123Val
XM_011525338.2:c.3085C>G	XP_011523640.1:p.Leu1029Val
XM_017025200.1:c.3025C>G	XP_016880689.1:p.Leu1009Val
XM_017025201.1:c.3025C>G	XP_016880690.1:p.Leu1009Val
XM_017025202.1:c.1654C>G	XP_016880691.1:p.Leu552Val
XM_017025203.1:c.1654C>G	XP_016880692.1:p.Leu552Val
NM_032043.3:c.3508C>G MANE Select	NP_114432.2:p.Leu1170Val