Canonical Allele Identifier: CA400477791
Gene: BRIP1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683345A>G , CM000679.2:g.61683345A>G GRCh38
NC_000017.10:g.59760706A>G , CM000679.1:g.59760706A>G GRCh37
NC_000017.9:g.57115488A>G NCBI36
NG_007409.2:g.185215T>C , LRG_300:g.185215T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2441T>C
ENST00000682453.1:c.3701T>C ENSP00000506943.1:p.Phe1234Ser
ENST00000682477.1:c.*3127T>C ENSP00000507075.1:n.*3127T>C
ENST00000682589.1:n.9578T>C
ENST00000682755.1:c.3479T>C ENSP00000507660.1:p.Phe1160Ser
ENST00000682989.1:c.*792T>C ENSP00000507786.1:n.*792T>C
ENST00000683039.1:c.3701T>C ENSP00000508303.1:p.Phe1234Ser
ENST00000683235.1:c.*1116T>C ENSP00000507646.1:n.*1116T>C
ENST00000683535.1:n.1831T>C
ENST00000684584.1:c.2864T>C ENSP00000508044.1:p.Phe955Ser
ENST00000684626.1:n.1947T>C
ENST00000684769.1:c.1891T>C ENSP00000507691.1:n.1891T>C
ENST00000259008.7:c.3701T>C MANE Select ENSP00000259008.2:p.Phe1234Ser
ENST00000259008.6:c.3701T>C ENSP00000259008.2:p.Phe1234Ser
NM_032043.2:c.3701T>C , LRG_300t1:c.3701T>C NP_114432.2:p.Phe1234Ser
XM_011525332.1:c.3761T>C XP_011523634.1:p.Phe1254Ser
XM_011525333.1:c.3761T>C XP_011523635.1:p.Phe1254Ser
XM_011525334.1:c.3761T>C XP_011523636.1:p.Phe1254Ser
XM_011525335.1:c.3701T>C XP_011523637.1:p.Phe1234Ser
XM_011525336.1:c.3641T>C XP_011523638.1:p.Phe1214Ser
XM_011525337.1:c.3560T>C XP_011523639.1:p.Phe1187Ser
XM_011525338.1:c.3278T>C XP_011523640.1:p.Phe1093Ser
XM_011525332.3:c.3761T>C XP_011523634.1:p.Phe1254Ser
XM_011525333.3:c.3761T>C XP_011523635.1:p.Phe1254Ser
XM_011525334.2:c.3761T>C XP_011523636.1:p.Phe1254Ser
XM_011525335.3:c.3701T>C XP_011523637.1:p.Phe1234Ser
XM_011525336.2:c.3641T>C XP_011523638.1:p.Phe1214Ser
XM_011525337.2:c.3560T>C XP_011523639.1:p.Phe1187Ser
XM_011525338.2:c.3278T>C XP_011523640.1:p.Phe1093Ser
XM_017025200.1:c.3218T>C XP_016880689.1:p.Phe1073Ser
XM_017025201.1:c.3218T>C XP_016880690.1:p.Phe1073Ser
XM_017025202.1:c.1847T>C XP_016880691.1:p.Phe616Ser
XM_017025203.1:c.1847T>C XP_016880692.1:p.Phe616Ser
NM_032043.3:c.3701T>C MANE Select NP_114432.2:p.Phe1234Ser