Canonical Allele Identifier: CA400478426
Community Standard Title: NM_032043.3(BRIP1):c.1993C>T (p.Gln665Ter)
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61776505G>A , CM000679.2:g.61776505G>A GRCh38
NC_000017.10:g.59853866G>A , CM000679.1:g.59853866G>A GRCh37
NC_000017.9:g.57208648G>A NCBI36
NG_007409.2:g.92055C>T , LRG_300:g.92055C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.1993C>T MANE Select NP_114432.2:p.Gln665Ter
ENST00000259008.7:c.1993C>T MANE Select ENSP00000259008.2:p.Gln665Ter
NM_032043.2:c.1993C>T , LRG_300t1:c.1993C>T NP_114432.2:p.Gln665Ter
ENST00000259008.6:c.1993C>T ENSP00000259008.2:p.Gln665Ter
ENST00000577598.5:c.1993C>T ENSP00000464654.1:p.Gln665Ter
ENST00000579028.1:c.686C>T
ENST00000579028.2:c.1575C>T ENSP00000463827.2:n.1575C>T
ENST00000583837.5:n.75C>T
ENST00000584322.2:c.1993C>T ENSP00000463272.2:p.Gln665Ter
ENST00000682066.1:c.1486C>T ENSP00000507191.1:p.Gln496Ter
ENST00000682073.1:n.733C>T
ENST00000682433.1:n.1072C>T
ENST00000682453.1:c.1993C>T ENSP00000506943.1:p.Gln665Ter
ENST00000682477.1:c.*1419C>T ENSP00000507075.1:n.*1419C>T
ENST00000682589.1:n.7870C>T
ENST00000682611.1:c.1652C>T ENSP00000508326.1:n.1652C>T
ENST00000682755.1:c.1771C>T ENSP00000507660.1:p.Gln591Ter
ENST00000682989.1:c.1993C>T ENSP00000507786.1:p.Gln665Ter
ENST00000683039.1:c.1993C>T ENSP00000508303.1:p.Gln665Ter
ENST00000683235.1:c.1993C>T ENSP00000507646.1:p.Gln665Ter
ENST00000683381.1:c.2053C>T ENSP00000508184.1:p.Gln685Ter
ENST00000683535.1:n.123C>T
ENST00000684471.1:n.409-3C>T
ENST00000684584.1:c.1486C>T ENSP00000508044.1:p.Gln496Ter
ENST00000684769.1:c.58C>T ENSP00000507691.1:p.Gln20Ter
XM_011525332.1:c.2053C>T XP_011523634.1:p.Gln685Ter
XM_011525332.3:c.2053C>T XP_011523634.1:p.Gln685Ter
XM_011525333.1:c.2053C>T XP_011523635.1:p.Gln685Ter
XM_011525333.3:c.2053C>T XP_011523635.1:p.Gln685Ter
XM_011525334.1:c.2053C>T XP_011523636.1:p.Gln685Ter
XM_011525334.2:c.2053C>T XP_011523636.1:p.Gln685Ter
XM_011525335.1:c.1996-3C>T XP_011523637.1:n.1996-3C>T
XM_011525335.3:c.1996-3C>T XP_011523637.1:n.1996-3C>T
XM_011525336.1:c.1936-3C>T XP_011523638.1:n.1936-3C>T
XM_011525336.2:c.1936-3C>T XP_011523638.1:n.1936-3C>T
XM_011525337.1:c.1852C>T XP_011523639.1:p.Gln618Ter
XM_011525337.2:c.1852C>T XP_011523639.1:p.Gln618Ter
XM_011525338.1:c.1570C>T XP_011523640.1:p.Gln524Ter
XM_011525338.2:c.1570C>T XP_011523640.1:p.Gln524Ter
XM_011525339.1:c.2053C>T XP_011523641.1:p.Gln685Ter
XM_011525339.3:c.2053C>T XP_011523641.1:p.Gln685Ter
XM_011525340.1:c.2053C>T XP_011523642.1:p.Gln685Ter
XM_011525340.3:c.2053C>T XP_011523642.1:p.Gln685Ter
XM_017025200.1:c.1510C>T XP_016880689.1:p.Gln504Ter
XM_017025201.1:c.1510C>T XP_016880690.1:p.Gln504Ter
XM_017025202.1:c.139C>T XP_016880691.1:p.Gln47Ter
XM_017025203.1:c.139C>T XP_016880692.1:p.Gln47Ter