Canonical Allele Identifier: CA400479223

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 530304
• ClinVar RCV Id: RCV000636085 ; RCV000776642 ; RCV003471996
• dbSNP Id: rs1420431000
• gnomAD v3: 17-61683816-A-C
• gnomAD v4: 17-61683816-A-C
• MyVariant Identifiers: chr17:g.59761177A>C (hg19) ; chr17:g.61683816A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683816A>C , CM000679.2:g.61683816A>C	GRCh38
NC_000017.10:g.59761177A>C , CM000679.1:g.59761177A>C	GRCh37
NC_000017.9:g.57115959A>C	NCBI36
NG_007409.2:g.184744T>G , LRG_300:g.184744T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1970T>G
ENST00000682453.1:c.3230T>G	ENSP00000506943.1:p.Leu1077Ter
ENST00000682477.1:c.*2656T>G	ENSP00000507075.1:n.*2656T>G
ENST00000682589.1:n.9107T>G
ENST00000682755.1:c.3008T>G	ENSP00000507660.1:p.Leu1003Ter
ENST00000682989.1:c.*321T>G	ENSP00000507786.1:n.*321T>G
ENST00000683039.1:c.3230T>G	ENSP00000508303.1:p.Leu1077Ter
ENST00000683235.1:c.*645T>G	ENSP00000507646.1:n.*645T>G
ENST00000683535.1:n.1360T>G
ENST00000684584.1:c.2393T>G	ENSP00000508044.1:p.Leu798Ter
ENST00000684626.1:n.1476T>G
ENST00000684769.1:c.1420T>G	ENSP00000507691.1:n.1420T>G
ENST00000259008.7:c.3230T>G MANE Select	ENSP00000259008.2:p.Leu1077Ter
ENST00000259008.6:c.3230T>G	ENSP00000259008.2:p.Leu1077Ter
NM_032043.2:c.3230T>G , LRG_300t1:c.3230T>G	NP_114432.2:p.Leu1077Ter
XM_011525332.1:c.3290T>G	XP_011523634.1:p.Leu1097Ter
XM_011525333.1:c.3290T>G	XP_011523635.1:p.Leu1097Ter
XM_011525334.1:c.3290T>G	XP_011523636.1:p.Leu1097Ter
XM_011525335.1:c.3230T>G	XP_011523637.1:p.Leu1077Ter
XM_011525336.1:c.3170T>G	XP_011523638.1:p.Leu1057Ter
XM_011525337.1:c.3089T>G	XP_011523639.1:p.Leu1030Ter
XM_011525338.1:c.2807T>G	XP_011523640.1:p.Leu936Ter
XM_011525332.3:c.3290T>G	XP_011523634.1:p.Leu1097Ter
XM_011525333.3:c.3290T>G	XP_011523635.1:p.Leu1097Ter
XM_011525334.2:c.3290T>G	XP_011523636.1:p.Leu1097Ter
XM_011525335.3:c.3230T>G	XP_011523637.1:p.Leu1077Ter
XM_011525336.2:c.3170T>G	XP_011523638.1:p.Leu1057Ter
XM_011525337.2:c.3089T>G	XP_011523639.1:p.Leu1030Ter
XM_011525338.2:c.2807T>G	XP_011523640.1:p.Leu936Ter
XM_017025200.1:c.2747T>G	XP_016880689.1:p.Leu916Ter
XM_017025201.1:c.2747T>G	XP_016880690.1:p.Leu916Ter
XM_017025202.1:c.1376T>G	XP_016880691.1:p.Leu459Ter
XM_017025203.1:c.1376T>G	XP_016880692.1:p.Leu459Ter
NM_032043.3:c.3230T>G MANE Select	NP_114432.2:p.Leu1077Ter