Canonical Allele Identifier: CA400479890

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 483215
• ClinVar RCV Id: RCV001858274
• dbSNP Id: rs1555572880
• gnomAD v3: 17-61683985-G-A
• gnomAD v4: 17-61683985-G-A
• MyVariant Identifiers: chr17:g.59761346G>A (hg19) ; chr17:g.61683985G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683985G>A , CM000679.2:g.61683985G>A	GRCh38
NC_000017.10:g.59761346G>A , CM000679.1:g.59761346G>A	GRCh37
NC_000017.9:g.57116128G>A	NCBI36
NG_007409.2:g.184575C>T , LRG_300:g.184575C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682073.1:n.1801C>T
ENST00000682453.1:c.3061C>T	ENSP00000506943.1:p.Pro1021Ser
ENST00000682477.1:c.*2487C>T	ENSP00000507075.1:n.*2487C>T
ENST00000682589.1:n.8938C>T
ENST00000682755.1:c.2839C>T	ENSP00000507660.1:p.Pro947Ser
ENST00000682989.1:c.*152C>T	ENSP00000507786.1:n.*152C>T
ENST00000683039.1:c.3061C>T	ENSP00000508303.1:p.Pro1021Ser
ENST00000683235.1:c.*476C>T	ENSP00000507646.1:n.*476C>T
ENST00000683535.1:n.1191C>T
ENST00000684584.1:c.2224C>T	ENSP00000508044.1:p.Pro742Ser
ENST00000684626.1:n.1307C>T
ENST00000684769.1:c.1251C>T	ENSP00000507691.1:n.1251C>T
ENST00000259008.7:c.3061C>T MANE Select	ENSP00000259008.2:p.Pro1021Ser
ENST00000259008.6:c.3061C>T	ENSP00000259008.2:p.Pro1021Ser
NM_032043.2:c.3061C>T , LRG_300t1:c.3061C>T	NP_114432.2:p.Pro1021Ser
XM_011525332.1:c.3121C>T	XP_011523634.1:p.Pro1041Ser
XM_011525333.1:c.3121C>T	XP_011523635.1:p.Pro1041Ser
XM_011525334.1:c.3121C>T	XP_011523636.1:p.Pro1041Ser
XM_011525335.1:c.3061C>T	XP_011523637.1:p.Pro1021Ser
XM_011525336.1:c.3001C>T	XP_011523638.1:p.Pro1001Ser
XM_011525337.1:c.2920C>T	XP_011523639.1:p.Pro974Ser
XM_011525338.1:c.2638C>T	XP_011523640.1:p.Pro880Ser
XM_011525332.3:c.3121C>T	XP_011523634.1:p.Pro1041Ser
XM_011525333.3:c.3121C>T	XP_011523635.1:p.Pro1041Ser
XM_011525334.2:c.3121C>T	XP_011523636.1:p.Pro1041Ser
XM_011525335.3:c.3061C>T	XP_011523637.1:p.Pro1021Ser
XM_011525336.2:c.3001C>T	XP_011523638.1:p.Pro1001Ser
XM_011525337.2:c.2920C>T	XP_011523639.1:p.Pro974Ser
XM_011525338.2:c.2638C>T	XP_011523640.1:p.Pro880Ser
XM_017025200.1:c.2578C>T	XP_016880689.1:p.Pro860Ser
XM_017025201.1:c.2578C>T	XP_016880690.1:p.Pro860Ser
XM_017025202.1:c.1207C>T	XP_016880691.1:p.Pro403Ser
XM_017025203.1:c.1207C>T	XP_016880692.1:p.Pro403Ser
NM_032043.3:c.3061C>T MANE Select	NP_114432.2:p.Pro1021Ser