Canonical Allele Identifier: CA16620509

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 423671
• ClinVar RCV Id: RCV000485098
• dbSNP Id: rs1064796566
• MyVariant Identifiers: chr17:g.59761033G>C (hg19) ; chr17:g.61683672G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2114C>G
ENST00000682453.1:c.3374C>G	ENSP00000506943.1:p.Ala1125Gly
ENST00000682477.1:c.*2800C>G	ENSP00000507075.1:n.*2800C>G
ENST00000682589.1:n.9251C>G
ENST00000682755.1:c.3152C>G	ENSP00000507660.1:p.Ala1051Gly
ENST00000682989.1:c.*465C>G	ENSP00000507786.1:n.*465C>G
ENST00000683039.1:c.3374C>G	ENSP00000508303.1:p.Ala1125Gly
ENST00000683235.1:c.*789C>G	ENSP00000507646.1:n.*789C>G
ENST00000683535.1:n.1504C>G
ENST00000684584.1:c.2537C>G	ENSP00000508044.1:p.Ala846Gly
ENST00000684626.1:n.1620C>G
ENST00000684769.1:c.1564C>G	ENSP00000507691.1:n.1564C>G
ENST00000259008.7:c.3374C>G MANE Select	ENSP00000259008.2:p.Ala1125Gly
ENST00000259008.6:c.3374C>G	ENSP00000259008.2:p.Ala1125Gly
NM_032043.2:c.3374C>G , LRG_300t1:c.3374C>G	NP_114432.2:p.Ala1125Gly
XM_011525332.1:c.3434C>G	XP_011523634.1:p.Ala1145Gly
XM_011525333.1:c.3434C>G	XP_011523635.1:p.Ala1145Gly
XM_011525334.1:c.3434C>G	XP_011523636.1:p.Ala1145Gly
XM_011525335.1:c.3374C>G	XP_011523637.1:p.Ala1125Gly
XM_011525336.1:c.3314C>G	XP_011523638.1:p.Ala1105Gly
XM_011525337.1:c.3233C>G	XP_011523639.1:p.Ala1078Gly
XM_011525338.1:c.2951C>G	XP_011523640.1:p.Ala984Gly
XM_011525332.3:c.3434C>G	XP_011523634.1:p.Ala1145Gly
XM_011525333.3:c.3434C>G	XP_011523635.1:p.Ala1145Gly
XM_011525334.2:c.3434C>G	XP_011523636.1:p.Ala1145Gly
XM_011525335.3:c.3374C>G	XP_011523637.1:p.Ala1125Gly
XM_011525336.2:c.3314C>G	XP_011523638.1:p.Ala1105Gly
XM_011525337.2:c.3233C>G	XP_011523639.1:p.Ala1078Gly
XM_011525338.2:c.2951C>G	XP_011523640.1:p.Ala984Gly
XM_017025200.1:c.2891C>G	XP_016880689.1:p.Ala964Gly
XM_017025201.1:c.2891C>G	XP_016880690.1:p.Ala964Gly
XM_017025202.1:c.1520C>G	XP_016880691.1:p.Ala507Gly
XM_017025203.1:c.1520C>G	XP_016880692.1:p.Ala507Gly
NM_032043.3:c.3374C>G MANE Select	NP_114432.2:p.Ala1125Gly