Canonical Allele Identifier: CA501335446

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144088520
• gnomAD v4: 17-61683956-G-A
• MyVariant Identifiers: chr17:g.59761317G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683956G>A , CM000679.2:g.61683956G>A	GRCh38
NC_000017.10:g.59761317G>A , CM000679.1:g.59761317G>A	GRCh37
NC_000017.9:g.57116099G>A	NCBI36
NG_007409.2:g.184604C>T , LRG_300:g.184604C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1830C>T
ENST00000682453.1:c.3090C>T	ENSP00000506943.1:p.Ala1030=
ENST00000682477.1:c.*2516C>T	ENSP00000507075.1:n.*2516C>T
ENST00000682589.1:n.8967C>T
ENST00000682755.1:c.2868C>T	ENSP00000507660.1:p.Ala956=
ENST00000682989.1:c.*181C>T	ENSP00000507786.1:n.*181C>T
ENST00000683039.1:c.3090C>T	ENSP00000508303.1:p.Ala1030=
ENST00000683235.1:c.*505C>T	ENSP00000507646.1:n.*505C>T
ENST00000683535.1:n.1220C>T
ENST00000684584.1:c.2253C>T	ENSP00000508044.1:p.Ala751=
ENST00000684626.1:n.1336C>T
ENST00000684769.1:c.1280C>T	ENSP00000507691.1:n.1280C>T
ENST00000259008.7:c.3090C>T MANE Select	ENSP00000259008.2:p.Ala1030=
ENST00000259008.6:c.3090C>T	ENSP00000259008.2:p.Ala1030=
NM_032043.2:c.3090C>T , LRG_300t1:c.3090C>T	NP_114432.2:p.Ala1030=
XM_011525332.1:c.3150C>T	XP_011523634.1:p.Ala1050=
XM_011525333.1:c.3150C>T	XP_011523635.1:p.Ala1050=
XM_011525334.1:c.3150C>T	XP_011523636.1:p.Ala1050=
XM_011525335.1:c.3090C>T	XP_011523637.1:p.Ala1030=
XM_011525336.1:c.3030C>T	XP_011523638.1:p.Ala1010=
XM_011525337.1:c.2949C>T	XP_011523639.1:p.Ala983=
XM_011525338.1:c.2667C>T	XP_011523640.1:p.Ala889=
XM_011525332.3:c.3150C>T	XP_011523634.1:p.Ala1050=
XM_011525333.3:c.3150C>T	XP_011523635.1:p.Ala1050=
XM_011525334.2:c.3150C>T	XP_011523636.1:p.Ala1050=
XM_011525335.3:c.3090C>T	XP_011523637.1:p.Ala1030=
XM_011525336.2:c.3030C>T	XP_011523638.1:p.Ala1010=
XM_011525337.2:c.2949C>T	XP_011523639.1:p.Ala983=
XM_011525338.2:c.2667C>T	XP_011523640.1:p.Ala889=
XM_017025200.1:c.2607C>T	XP_016880689.1:p.Ala869=
XM_017025201.1:c.2607C>T	XP_016880690.1:p.Ala869=
XM_017025202.1:c.1236C>T	XP_016880691.1:p.Ala412=
XM_017025203.1:c.1236C>T	XP_016880692.1:p.Ala412=
NM_032043.3:c.3090C>T MANE Select	NP_114432.2:p.Ala1030=