Canonical Allele Identifier: CA501335157
Gene: BRIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.59761089A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683728A>C , CM000679.2:g.61683728A>C GRCh38
NC_000017.10:g.59761089A>C , CM000679.1:g.59761089A>C GRCh37
NC_000017.9:g.57115871A>C NCBI36
NG_007409.2:g.184832T>G , LRG_300:g.184832T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2058T>G
ENST00000682453.1:c.3318T>G ENSP00000506943.1:p.Ser1106=
ENST00000682477.1:c.*2744T>G ENSP00000507075.1:n.*2744T>G
ENST00000682589.1:n.9195T>G
ENST00000682755.1:c.3096T>G ENSP00000507660.1:p.Ser1032=
ENST00000682989.1:c.*409T>G ENSP00000507786.1:n.*409T>G
ENST00000683039.1:c.3318T>G ENSP00000508303.1:p.Ser1106=
ENST00000683235.1:c.*733T>G ENSP00000507646.1:n.*733T>G
ENST00000683535.1:n.1448T>G
ENST00000684584.1:c.2481T>G ENSP00000508044.1:p.Ser827=
ENST00000684626.1:n.1564T>G
ENST00000684769.1:c.1508T>G ENSP00000507691.1:n.1508T>G
ENST00000259008.7:c.3318T>G MANE Select ENSP00000259008.2:p.Ser1106=
ENST00000259008.6:c.3318T>G ENSP00000259008.2:p.Ser1106=
NM_032043.2:c.3318T>G , LRG_300t1:c.3318T>G NP_114432.2:p.Ser1106=
XM_011525332.1:c.3378T>G XP_011523634.1:p.Ser1126=
XM_011525333.1:c.3378T>G XP_011523635.1:p.Ser1126=
XM_011525334.1:c.3378T>G XP_011523636.1:p.Ser1126=
XM_011525335.1:c.3318T>G XP_011523637.1:p.Ser1106=
XM_011525336.1:c.3258T>G XP_011523638.1:p.Ser1086=
XM_011525337.1:c.3177T>G XP_011523639.1:p.Ser1059=
XM_011525338.1:c.2895T>G XP_011523640.1:p.Ser965=
XM_011525332.3:c.3378T>G XP_011523634.1:p.Ser1126=
XM_011525333.3:c.3378T>G XP_011523635.1:p.Ser1126=
XM_011525334.2:c.3378T>G XP_011523636.1:p.Ser1126=
XM_011525335.3:c.3318T>G XP_011523637.1:p.Ser1106=
XM_011525336.2:c.3258T>G XP_011523638.1:p.Ser1086=
XM_011525337.2:c.3177T>G XP_011523639.1:p.Ser1059=
XM_011525338.2:c.2895T>G XP_011523640.1:p.Ser965=
XM_017025200.1:c.2835T>G XP_016880689.1:p.Ser945=
XM_017025201.1:c.2835T>G XP_016880690.1:p.Ser945=
XM_017025202.1:c.1464T>G XP_016880691.1:p.Ser488=
XM_017025203.1:c.1464T>G XP_016880692.1:p.Ser488=
NM_032043.3:c.3318T>G MANE Select NP_114432.2:p.Ser1106=