Canonical Allele Identifier: CA501335298
Gene: BRIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.59761203A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683842A>T , CM000679.2:g.61683842A>T GRCh38
NC_000017.10:g.59761203A>T , CM000679.1:g.59761203A>T GRCh37
NC_000017.9:g.57115985A>T NCBI36
NG_007409.2:g.184718T>A , LRG_300:g.184718T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1944T>A
ENST00000682453.1:c.3204T>A ENSP00000506943.1:p.Pro1068=
ENST00000682477.1:c.*2630T>A ENSP00000507075.1:n.*2630T>A
ENST00000682589.1:n.9081T>A
ENST00000682755.1:c.2982T>A ENSP00000507660.1:p.Pro994=
ENST00000682989.1:c.*295T>A ENSP00000507786.1:n.*295T>A
ENST00000683039.1:c.3204T>A ENSP00000508303.1:p.Pro1068=
ENST00000683235.1:c.*619T>A ENSP00000507646.1:n.*619T>A
ENST00000683535.1:n.1334T>A
ENST00000684584.1:c.2367T>A ENSP00000508044.1:p.Pro789=
ENST00000684626.1:n.1450T>A
ENST00000684769.1:c.1394T>A ENSP00000507691.1:n.1394T>A
ENST00000259008.7:c.3204T>A MANE Select ENSP00000259008.2:p.Pro1068=
ENST00000259008.6:c.3204T>A ENSP00000259008.2:p.Pro1068=
NM_032043.2:c.3204T>A , LRG_300t1:c.3204T>A NP_114432.2:p.Pro1068=
XM_011525332.1:c.3264T>A XP_011523634.1:p.Pro1088=
XM_011525333.1:c.3264T>A XP_011523635.1:p.Pro1088=
XM_011525334.1:c.3264T>A XP_011523636.1:p.Pro1088=
XM_011525335.1:c.3204T>A XP_011523637.1:p.Pro1068=
XM_011525336.1:c.3144T>A XP_011523638.1:p.Pro1048=
XM_011525337.1:c.3063T>A XP_011523639.1:p.Pro1021=
XM_011525338.1:c.2781T>A XP_011523640.1:p.Pro927=
XM_011525332.3:c.3264T>A XP_011523634.1:p.Pro1088=
XM_011525333.3:c.3264T>A XP_011523635.1:p.Pro1088=
XM_011525334.2:c.3264T>A XP_011523636.1:p.Pro1088=
XM_011525335.3:c.3204T>A XP_011523637.1:p.Pro1068=
XM_011525336.2:c.3144T>A XP_011523638.1:p.Pro1048=
XM_011525337.2:c.3063T>A XP_011523639.1:p.Pro1021=
XM_011525338.2:c.2781T>A XP_011523640.1:p.Pro927=
XM_017025200.1:c.2721T>A XP_016880689.1:p.Pro907=
XM_017025201.1:c.2721T>A XP_016880690.1:p.Pro907=
XM_017025202.1:c.1350T>A XP_016880691.1:p.Pro450=
XM_017025203.1:c.1350T>A XP_016880692.1:p.Pro450=
NM_032043.3:c.3204T>A MANE Select NP_114432.2:p.Pro1068=