Canonical Allele Identifier: CA288594

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 128188
• ClinVar RCV Id: RCV000116157 ; RCV000212335 ; RCV003460838
• dbSNP Id: rs587780249
• ExAC: 17:59760995 C / A
• gnomAD v2: 17-59760995-C-A
• gnomAD v3: 17-61683634-C-A
• gnomAD v4: 17-61683634-C-A
• MyVariant Identifiers: chr17:g.59760995C>A (hg19) ; chr17:g.61683634C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683634C>A , CM000679.2:g.61683634C>A	GRCh38
NC_000017.10:g.59760995C>A , CM000679.1:g.59760995C>A	GRCh37
NC_000017.9:g.57115777C>A	NCBI36
NG_007409.2:g.184926G>T , LRG_300:g.184926G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2152G>T
ENST00000682453.1:c.3412G>T	ENSP00000506943.1:p.Asp1138Tyr
ENST00000682477.1:c.*2838G>T	ENSP00000507075.1:n.*2838G>T
ENST00000682589.1:n.9289G>T
ENST00000682755.1:c.3190G>T	ENSP00000507660.1:p.Asp1064Tyr
ENST00000682989.1:c.*503G>T	ENSP00000507786.1:n.*503G>T
ENST00000683039.1:c.3412G>T	ENSP00000508303.1:p.Asp1138Tyr
ENST00000683235.1:c.*827G>T	ENSP00000507646.1:n.*827G>T
ENST00000683535.1:n.1542G>T
ENST00000684584.1:c.2575G>T	ENSP00000508044.1:p.Asp859Tyr
ENST00000684626.1:n.1658G>T
ENST00000684769.1:c.1602G>T	ENSP00000507691.1:n.1602G>T
ENST00000259008.7:c.3412G>T MANE Select	ENSP00000259008.2:p.Asp1138Tyr
ENST00000259008.6:c.3412G>T	ENSP00000259008.2:p.Asp1138Tyr
NM_032043.2:c.3412G>T , LRG_300t1:c.3412G>T	NP_114432.2:p.Asp1138Tyr
XM_011525332.1:c.3472G>T	XP_011523634.1:p.Asp1158Tyr
XM_011525333.1:c.3472G>T	XP_011523635.1:p.Asp1158Tyr
XM_011525334.1:c.3472G>T	XP_011523636.1:p.Asp1158Tyr
XM_011525335.1:c.3412G>T	XP_011523637.1:p.Asp1138Tyr
XM_011525336.1:c.3352G>T	XP_011523638.1:p.Asp1118Tyr
XM_011525337.1:c.3271G>T	XP_011523639.1:p.Asp1091Tyr
XM_011525338.1:c.2989G>T	XP_011523640.1:p.Asp997Tyr
XM_011525332.3:c.3472G>T	XP_011523634.1:p.Asp1158Tyr
XM_011525333.3:c.3472G>T	XP_011523635.1:p.Asp1158Tyr
XM_011525334.2:c.3472G>T	XP_011523636.1:p.Asp1158Tyr
XM_011525335.3:c.3412G>T	XP_011523637.1:p.Asp1138Tyr
XM_011525336.2:c.3352G>T	XP_011523638.1:p.Asp1118Tyr
XM_011525337.2:c.3271G>T	XP_011523639.1:p.Asp1091Tyr
XM_011525338.2:c.2989G>T	XP_011523640.1:p.Asp997Tyr
XM_017025200.1:c.2929G>T	XP_016880689.1:p.Asp977Tyr
XM_017025201.1:c.2929G>T	XP_016880690.1:p.Asp977Tyr
XM_017025202.1:c.1558G>T	XP_016880691.1:p.Asp520Tyr
XM_017025203.1:c.1558G>T	XP_016880692.1:p.Asp520Tyr
NM_032043.3:c.3412G>T MANE Select	NP_114432.2:p.Asp1138Tyr