Canonical Allele Identifier: CA400480062
Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2680311
ClinVar RCV Id: RCV003460283
dbSNP Id: rs749978235

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61684056G>C , CM000679.2:g.61684056G>C GRCh38
NC_000017.10:g.59761417G>C , CM000679.1:g.59761417G>C GRCh37
NC_000017.9:g.57116199G>C NCBI36
NG_007409.2:g.184504C>G , LRG_300:g.184504C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1730C>G
ENST00000682453.1:c.2990C>G ENSP00000506943.1:p.Thr997Arg
ENST00000682477.1:c.*2416C>G ENSP00000507075.1:n.*2416C>G
ENST00000682589.1:n.8867C>G
ENST00000682755.1:c.2768C>G ENSP00000507660.1:p.Thr923Arg
ENST00000682989.1:c.*81C>G ENSP00000507786.1:n.*81C>G
ENST00000683039.1:c.2990C>G ENSP00000508303.1:p.Thr997Arg
ENST00000683235.1:c.*405C>G ENSP00000507646.1:n.*405C>G
ENST00000683535.1:n.1120C>G
ENST00000684584.1:c.2153C>G ENSP00000508044.1:p.Thr718Arg
ENST00000684626.1:n.1236C>G
ENST00000684769.1:c.1180C>G ENSP00000507691.1:n.1180C>G
ENST00000259008.7:c.2990C>G MANE Select ENSP00000259008.2:p.Thr997Arg
ENST00000259008.6:c.2990C>G ENSP00000259008.2:p.Thr997Arg
NM_032043.2:c.2990C>G , LRG_300t1:c.2990C>G NP_114432.2:p.Thr997Arg
XM_011525332.1:c.3050C>G XP_011523634.1:p.Thr1017Arg
XM_011525333.1:c.3050C>G XP_011523635.1:p.Thr1017Arg
XM_011525334.1:c.3050C>G XP_011523636.1:p.Thr1017Arg
XM_011525335.1:c.2990C>G XP_011523637.1:p.Thr997Arg
XM_011525336.1:c.2930C>G XP_011523638.1:p.Thr977Arg
XM_011525337.1:c.2849C>G XP_011523639.1:p.Thr950Arg
XM_011525338.1:c.2567C>G XP_011523640.1:p.Thr856Arg
XM_011525332.3:c.3050C>G XP_011523634.1:p.Thr1017Arg
XM_011525333.3:c.3050C>G XP_011523635.1:p.Thr1017Arg
XM_011525334.2:c.3050C>G XP_011523636.1:p.Thr1017Arg
XM_011525335.3:c.2990C>G XP_011523637.1:p.Thr997Arg
XM_011525336.2:c.2930C>G XP_011523638.1:p.Thr977Arg
XM_011525337.2:c.2849C>G XP_011523639.1:p.Thr950Arg
XM_011525338.2:c.2567C>G XP_011523640.1:p.Thr856Arg
XM_017025200.1:c.2507C>G XP_016880689.1:p.Thr836Arg
XM_017025201.1:c.2507C>G XP_016880690.1:p.Thr836Arg
XM_017025202.1:c.1136C>G XP_016880691.1:p.Thr379Arg
XM_017025203.1:c.1136C>G XP_016880692.1:p.Thr379Arg
NM_032043.3:c.2990C>G MANE Select NP_114432.2:p.Thr997Arg