Canonical Allele Identifier: CA501335055

Gene: BRIP1

Linked Data

• dbSNP Id: rs2061309629
• MyVariant Identifiers: chr17:g.59761032T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683671T>A , CM000679.2:g.61683671T>A	GRCh38
NC_000017.10:g.59761032T>A , CM000679.1:g.59761032T>A	GRCh37
NC_000017.9:g.57115814T>A	NCBI36
NG_007409.2:g.184889A>T , LRG_300:g.184889A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2115A>T
ENST00000682453.1:c.3375A>T	ENSP00000506943.1:p.Ala1125=
ENST00000682477.1:c.*2801A>T	ENSP00000507075.1:n.*2801A>T
ENST00000682589.1:n.9252A>T
ENST00000682755.1:c.3153A>T	ENSP00000507660.1:p.Ala1051=
ENST00000682989.1:c.*466A>T	ENSP00000507786.1:n.*466A>T
ENST00000683039.1:c.3375A>T	ENSP00000508303.1:p.Ala1125=
ENST00000683235.1:c.*790A>T	ENSP00000507646.1:n.*790A>T
ENST00000683535.1:n.1505A>T
ENST00000684584.1:c.2538A>T	ENSP00000508044.1:p.Ala846=
ENST00000684626.1:n.1621A>T
ENST00000684769.1:c.1565A>T	ENSP00000507691.1:n.1565A>T
ENST00000259008.7:c.3375A>T MANE Select	ENSP00000259008.2:p.Ala1125=
ENST00000259008.6:c.3375A>T	ENSP00000259008.2:p.Ala1125=
NM_032043.2:c.3375A>T , LRG_300t1:c.3375A>T	NP_114432.2:p.Ala1125=
XM_011525332.1:c.3435A>T	XP_011523634.1:p.Ala1145=
XM_011525333.1:c.3435A>T	XP_011523635.1:p.Ala1145=
XM_011525334.1:c.3435A>T	XP_011523636.1:p.Ala1145=
XM_011525335.1:c.3375A>T	XP_011523637.1:p.Ala1125=
XM_011525336.1:c.3315A>T	XP_011523638.1:p.Ala1105=
XM_011525337.1:c.3234A>T	XP_011523639.1:p.Ala1078=
XM_011525338.1:c.2952A>T	XP_011523640.1:p.Ala984=
XM_011525332.3:c.3435A>T	XP_011523634.1:p.Ala1145=
XM_011525333.3:c.3435A>T	XP_011523635.1:p.Ala1145=
XM_011525334.2:c.3435A>T	XP_011523636.1:p.Ala1145=
XM_011525335.3:c.3375A>T	XP_011523637.1:p.Ala1125=
XM_011525336.2:c.3315A>T	XP_011523638.1:p.Ala1105=
XM_011525337.2:c.3234A>T	XP_011523639.1:p.Ala1078=
XM_011525338.2:c.2952A>T	XP_011523640.1:p.Ala984=
XM_017025200.1:c.2892A>T	XP_016880689.1:p.Ala964=
XM_017025201.1:c.2892A>T	XP_016880690.1:p.Ala964=
XM_017025202.1:c.1521A>T	XP_016880691.1:p.Ala507=
XM_017025203.1:c.1521A>T	XP_016880692.1:p.Ala507=
NM_032043.3:c.3375A>T MANE Select	NP_114432.2:p.Ala1125=