Canonical Allele Identifier: CA334047

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 188103
• ClinVar RCV Id: RCV000587674 ; RCV001317647
• dbSNP Id: rs786204068
• MyVariant Identifiers: chr17:g.59761192G>T (hg19) ; chr17:g.61683831G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683831G>T , CM000679.2:g.61683831G>T	GRCh38
NC_000017.10:g.59761192G>T , CM000679.1:g.59761192G>T	GRCh37
NC_000017.9:g.57115974G>T	NCBI36
NG_007409.2:g.184729C>A , LRG_300:g.184729C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1955C>A
ENST00000682453.1:c.3215C>A	ENSP00000506943.1:p.Thr1072Asn
ENST00000682477.1:c.*2641C>A	ENSP00000507075.1:n.*2641C>A
ENST00000682589.1:n.9092C>A
ENST00000682755.1:c.2993C>A	ENSP00000507660.1:p.Thr998Asn
ENST00000682989.1:c.*306C>A	ENSP00000507786.1:n.*306C>A
ENST00000683039.1:c.3215C>A	ENSP00000508303.1:p.Thr1072Asn
ENST00000683235.1:c.*630C>A	ENSP00000507646.1:n.*630C>A
ENST00000683535.1:n.1345C>A
ENST00000684584.1:c.2378C>A	ENSP00000508044.1:p.Thr793Asn
ENST00000684626.1:n.1461C>A
ENST00000684769.1:c.1405C>A	ENSP00000507691.1:n.1405C>A
ENST00000259008.7:c.3215C>A MANE Select	ENSP00000259008.2:p.Thr1072Asn
ENST00000259008.6:c.3215C>A	ENSP00000259008.2:p.Thr1072Asn
NM_032043.2:c.3215C>A , LRG_300t1:c.3215C>A	NP_114432.2:p.Thr1072Asn
XM_011525332.1:c.3275C>A	XP_011523634.1:p.Thr1092Asn
XM_011525333.1:c.3275C>A	XP_011523635.1:p.Thr1092Asn
XM_011525334.1:c.3275C>A	XP_011523636.1:p.Thr1092Asn
XM_011525335.1:c.3215C>A	XP_011523637.1:p.Thr1072Asn
XM_011525336.1:c.3155C>A	XP_011523638.1:p.Thr1052Asn
XM_011525337.1:c.3074C>A	XP_011523639.1:p.Thr1025Asn
XM_011525338.1:c.2792C>A	XP_011523640.1:p.Thr931Asn
XM_011525332.3:c.3275C>A	XP_011523634.1:p.Thr1092Asn
XM_011525333.3:c.3275C>A	XP_011523635.1:p.Thr1092Asn
XM_011525334.2:c.3275C>A	XP_011523636.1:p.Thr1092Asn
XM_011525335.3:c.3215C>A	XP_011523637.1:p.Thr1072Asn
XM_011525336.2:c.3155C>A	XP_011523638.1:p.Thr1052Asn
XM_011525337.2:c.3074C>A	XP_011523639.1:p.Thr1025Asn
XM_011525338.2:c.2792C>A	XP_011523640.1:p.Thr931Asn
XM_017025200.1:c.2732C>A	XP_016880689.1:p.Thr911Asn
XM_017025201.1:c.2732C>A	XP_016880690.1:p.Thr911Asn
XM_017025202.1:c.1361C>A	XP_016880691.1:p.Thr454Asn
XM_017025203.1:c.1361C>A	XP_016880692.1:p.Thr454Asn
NM_032043.3:c.3215C>A MANE Select	NP_114432.2:p.Thr1072Asn