Canonical Allele Identifier: CA400481352

Gene: BRIP1

Linked Data

• dbSNP Id: rs1567731150
• gnomAD v3: 17-61685897-A-T
• gnomAD v4: 17-61685897-A-T
• MyVariant Identifiers: chr17:g.59763258A>T (hg19) ; chr17:g.61685897A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685897A>T , CM000679.2:g.61685897A>T	GRCh38
NC_000017.10:g.59763258A>T , CM000679.1:g.59763258A>T	GRCh37
NC_000017.9:g.57118040A>T	NCBI36
NG_007409.2:g.182663T>A , LRG_300:g.182663T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2974T>A	ENSP00000507191.1:n.2974T>A
ENST00000682073.1:n.1584T>A
ENST00000682433.1:n.1923T>A
ENST00000682453.1:c.2844T>A	ENSP00000506943.1:p.Cys948Ter
ENST00000682477.1:c.*2270T>A	ENSP00000507075.1:n.*2270T>A
ENST00000682589.1:n.8721T>A
ENST00000682755.1:c.2622T>A	ENSP00000507660.1:p.Cys874Ter
ENST00000682989.1:c.2610-1757T>A	ENSP00000507786.1:n.2610-1757T>A
ENST00000683039.1:c.2844T>A	ENSP00000508303.1:p.Cys948Ter
ENST00000683235.1:c.*259T>A	ENSP00000507646.1:n.*259T>A
ENST00000683535.1:n.974T>A
ENST00000684471.1:n.1257T>A
ENST00000684584.1:c.2069-1757T>A	ENSP00000508044.1:n.2069-1757T>A
ENST00000684626.1:n.1090T>A
ENST00000684769.1:c.1034T>A	ENSP00000507691.1:n.1034T>A
ENST00000259008.7:c.2844T>A MANE Select	ENSP00000259008.2:p.Cys948Ter
ENST00000259008.6:c.2844T>A	ENSP00000259008.2:p.Cys948Ter
ENST00000577598.5:c.2844T>A	ENSP00000464654.1:p.Cys948Ter
NM_032043.2:c.2844T>A , LRG_300t1:c.2844T>A	NP_114432.2:p.Cys948Ter
XM_011525332.1:c.2904T>A	XP_011523634.1:p.Cys968Ter
XM_011525333.1:c.2904T>A	XP_011523635.1:p.Cys968Ter
XM_011525334.1:c.2904T>A	XP_011523636.1:p.Cys968Ter
XM_011525335.1:c.2844T>A	XP_011523637.1:p.Cys948Ter
XM_011525336.1:c.2784T>A	XP_011523638.1:p.Cys928Ter
XM_011525337.1:c.2703T>A	XP_011523639.1:p.Cys901Ter
XM_011525338.1:c.2421T>A	XP_011523640.1:p.Cys807Ter
XM_011525332.3:c.2904T>A	XP_011523634.1:p.Cys968Ter
XM_011525333.3:c.2904T>A	XP_011523635.1:p.Cys968Ter
XM_011525334.2:c.2904T>A	XP_011523636.1:p.Cys968Ter
XM_011525335.3:c.2844T>A	XP_011523637.1:p.Cys948Ter
XM_011525336.2:c.2784T>A	XP_011523638.1:p.Cys928Ter
XM_011525337.2:c.2703T>A	XP_011523639.1:p.Cys901Ter
XM_011525338.2:c.2421T>A	XP_011523640.1:p.Cys807Ter
XM_017025200.1:c.2361T>A	XP_016880689.1:p.Cys787Ter
XM_017025201.1:c.2361T>A	XP_016880690.1:p.Cys787Ter
XM_017025202.1:c.990T>A	XP_016880691.1:p.Cys330Ter
XM_017025203.1:c.990T>A	XP_016880692.1:p.Cys330Ter
NM_032043.3:c.2844T>A MANE Select	NP_114432.2:p.Cys948Ter