Canonical Allele Identifier: CA400478866

Gene: BRIP1

Linked Data

• dbSNP Id: rs1064796566
• MyVariant Identifiers: chr17:g.59761033G>A (hg19) ; chr17:g.61683672G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683672G>A , CM000679.2:g.61683672G>A	GRCh38
NC_000017.10:g.59761033G>A , CM000679.1:g.59761033G>A	GRCh37
NC_000017.9:g.57115815G>A	NCBI36
NG_007409.2:g.184888C>T , LRG_300:g.184888C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2114C>T
ENST00000682453.1:c.3374C>T	ENSP00000506943.1:p.Ala1125Val
ENST00000682477.1:c.*2800C>T	ENSP00000507075.1:n.*2800C>T
ENST00000682589.1:n.9251C>T
ENST00000682755.1:c.3152C>T	ENSP00000507660.1:p.Ala1051Val
ENST00000682989.1:c.*465C>T	ENSP00000507786.1:n.*465C>T
ENST00000683039.1:c.3374C>T	ENSP00000508303.1:p.Ala1125Val
ENST00000683235.1:c.*789C>T	ENSP00000507646.1:n.*789C>T
ENST00000683535.1:n.1504C>T
ENST00000684584.1:c.2537C>T	ENSP00000508044.1:p.Ala846Val
ENST00000684626.1:n.1620C>T
ENST00000684769.1:c.1564C>T	ENSP00000507691.1:n.1564C>T
ENST00000259008.7:c.3374C>T MANE Select	ENSP00000259008.2:p.Ala1125Val
ENST00000259008.6:c.3374C>T	ENSP00000259008.2:p.Ala1125Val
NM_032043.2:c.3374C>T , LRG_300t1:c.3374C>T	NP_114432.2:p.Ala1125Val
XM_011525332.1:c.3434C>T	XP_011523634.1:p.Ala1145Val
XM_011525333.1:c.3434C>T	XP_011523635.1:p.Ala1145Val
XM_011525334.1:c.3434C>T	XP_011523636.1:p.Ala1145Val
XM_011525335.1:c.3374C>T	XP_011523637.1:p.Ala1125Val
XM_011525336.1:c.3314C>T	XP_011523638.1:p.Ala1105Val
XM_011525337.1:c.3233C>T	XP_011523639.1:p.Ala1078Val
XM_011525338.1:c.2951C>T	XP_011523640.1:p.Ala984Val
XM_011525332.3:c.3434C>T	XP_011523634.1:p.Ala1145Val
XM_011525333.3:c.3434C>T	XP_011523635.1:p.Ala1145Val
XM_011525334.2:c.3434C>T	XP_011523636.1:p.Ala1145Val
XM_011525335.3:c.3374C>T	XP_011523637.1:p.Ala1125Val
XM_011525336.2:c.3314C>T	XP_011523638.1:p.Ala1105Val
XM_011525337.2:c.3233C>T	XP_011523639.1:p.Ala1078Val
XM_011525338.2:c.2951C>T	XP_011523640.1:p.Ala984Val
XM_017025200.1:c.2891C>T	XP_016880689.1:p.Ala964Val
XM_017025201.1:c.2891C>T	XP_016880690.1:p.Ala964Val
XM_017025202.1:c.1520C>T	XP_016880691.1:p.Ala507Val
XM_017025203.1:c.1520C>T	XP_016880692.1:p.Ala507Val
NM_032043.3:c.3374C>T MANE Select	NP_114432.2:p.Ala1125Val