Canonical Allele Identifier: CA2269144344
Community Standard Title: NM_032043.3(BRIP1):c.2400C= (p.Tyr800=)
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61716043G= , CM000679.2:g.61716043G= GRCh38
NC_000017.10:g.59793404G= , CM000679.1:g.59793404G= GRCh37
NC_000017.9:g.57148186G= NCBI36
NG_007409.2:g.152517C= , LRG_300:g.152517C=

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.2400C= MANE Select NP_114432.2:p.Tyr800=
ENST00000259008.7:c.2400C= MANE Select ENSP00000259008.2:p.Tyr800=
NM_032043.2:c.2400C= , LRG_300t1:c.2400C= NP_114432.2:p.Tyr800=
ENST00000259008.6:c.2400C= ENSP00000259008.2:p.Tyr800=
ENST00000577598.5:c.2400C= ENSP00000464654.1:p.Tyr800=
ENST00000682066.1:c.2530C= ENSP00000507191.1:n.2530C=
ENST00000682073.1:n.1140C=
ENST00000682433.1:n.1479C=
ENST00000682453.1:c.2400C= ENSP00000506943.1:p.Tyr800=
ENST00000682477.1:c.*1826C= ENSP00000507075.1:n.*1826C=
ENST00000682589.1:n.8277C=
ENST00000682755.1:c.2178C= ENSP00000507660.1:p.Tyr726=
ENST00000682989.1:c.2400C= ENSP00000507786.1:p.Tyr800=
ENST00000683039.1:c.2400C= ENSP00000508303.1:p.Tyr800=
ENST00000683235.1:c.2400C= ENSP00000507646.1:p.Tyr800=
ENST00000683535.1:n.530C=
ENST00000684471.1:n.813C=
ENST00000684584.1:c.1893C= ENSP00000508044.1:p.Tyr631=
ENST00000684626.1:n.729C=
ENST00000684769.1:c.465C= ENSP00000507691.1:p.Tyr155=
XM_011525332.1:c.2460C= XP_011523634.1:p.Tyr820=
XM_011525332.3:c.2460C= XP_011523634.1:p.Tyr820=
XM_011525333.1:c.2460C= XP_011523635.1:p.Tyr820=
XM_011525333.3:c.2460C= XP_011523635.1:p.Tyr820=
XM_011525334.1:c.2460C= XP_011523636.1:p.Tyr820=
XM_011525334.2:c.2460C= XP_011523636.1:p.Tyr820=
XM_011525335.1:c.2400C= XP_011523637.1:p.Tyr800=
XM_011525335.3:c.2400C= XP_011523637.1:p.Tyr800=
XM_011525336.1:c.2340C= XP_011523638.1:p.Tyr780=
XM_011525336.2:c.2340C= XP_011523638.1:p.Tyr780=
XM_011525337.1:c.2259C= XP_011523639.1:p.Tyr753=
XM_011525337.2:c.2259C= XP_011523639.1:p.Tyr753=
XM_011525338.1:c.1977C= XP_011523640.1:p.Tyr659=
XM_011525338.2:c.1977C= XP_011523640.1:p.Tyr659=
XM_011525339.1:c.*41C= XP_011523641.1:n.*41C=
XM_011525339.3:c.*41C= XP_011523641.1:n.*41C=
XM_011525340.1:c.2460C= XP_011523642.1:p.Tyr820=
XM_011525340.3:c.2460C= XP_011523642.1:p.Tyr820=
XM_017025200.1:c.1917C= XP_016880689.1:p.Tyr639=
XM_017025201.1:c.1917C= XP_016880690.1:p.Tyr639=
XM_017025202.1:c.546C= XP_016880691.1:p.Tyr182=
XM_017025203.1:c.546C= XP_016880692.1:p.Tyr182=