Canonical Allele Identifier: CA400478623

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144074627
• gnomAD v4: 17-61683570-G-T
• MyVariant Identifiers: chr17:g.59760931G>T (hg19) ; chr17:g.61683570G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683570G>T , CM000679.2:g.61683570G>T	GRCh38
NC_000017.10:g.59760931G>T , CM000679.1:g.59760931G>T	GRCh37
NC_000017.9:g.57115713G>T	NCBI36
NG_007409.2:g.184990C>A , LRG_300:g.184990C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2216C>A
ENST00000682453.1:c.3476C>A	ENSP00000506943.1:p.Ala1159Asp
ENST00000682477.1:c.*2902C>A	ENSP00000507075.1:n.*2902C>A
ENST00000682589.1:n.9353C>A
ENST00000682755.1:c.3254C>A	ENSP00000507660.1:p.Ala1085Asp
ENST00000682989.1:c.*567C>A	ENSP00000507786.1:n.*567C>A
ENST00000683039.1:c.3476C>A	ENSP00000508303.1:p.Ala1159Asp
ENST00000683235.1:c.*891C>A	ENSP00000507646.1:n.*891C>A
ENST00000683535.1:n.1606C>A
ENST00000684584.1:c.2639C>A	ENSP00000508044.1:p.Ala880Asp
ENST00000684626.1:n.1722C>A
ENST00000684769.1:c.1666C>A	ENSP00000507691.1:n.1666C>A
ENST00000259008.7:c.3476C>A MANE Select	ENSP00000259008.2:p.Ala1159Asp
ENST00000259008.6:c.3476C>A	ENSP00000259008.2:p.Ala1159Asp
NM_032043.2:c.3476C>A , LRG_300t1:c.3476C>A	NP_114432.2:p.Ala1159Asp
XM_011525332.1:c.3536C>A	XP_011523634.1:p.Ala1179Asp
XM_011525333.1:c.3536C>A	XP_011523635.1:p.Ala1179Asp
XM_011525334.1:c.3536C>A	XP_011523636.1:p.Ala1179Asp
XM_011525335.1:c.3476C>A	XP_011523637.1:p.Ala1159Asp
XM_011525336.1:c.3416C>A	XP_011523638.1:p.Ala1139Asp
XM_011525337.1:c.3335C>A	XP_011523639.1:p.Ala1112Asp
XM_011525338.1:c.3053C>A	XP_011523640.1:p.Ala1018Asp
XM_011525332.3:c.3536C>A	XP_011523634.1:p.Ala1179Asp
XM_011525333.3:c.3536C>A	XP_011523635.1:p.Ala1179Asp
XM_011525334.2:c.3536C>A	XP_011523636.1:p.Ala1179Asp
XM_011525335.3:c.3476C>A	XP_011523637.1:p.Ala1159Asp
XM_011525336.2:c.3416C>A	XP_011523638.1:p.Ala1139Asp
XM_011525337.2:c.3335C>A	XP_011523639.1:p.Ala1112Asp
XM_011525338.2:c.3053C>A	XP_011523640.1:p.Ala1018Asp
XM_017025200.1:c.2993C>A	XP_016880689.1:p.Ala998Asp
XM_017025201.1:c.2993C>A	XP_016880690.1:p.Ala998Asp
XM_017025202.1:c.1622C>A	XP_016880691.1:p.Ala541Asp
XM_017025203.1:c.1622C>A	XP_016880692.1:p.Ala541Asp
NM_032043.3:c.3476C>A MANE Select	NP_114432.2:p.Ala1159Asp