Canonical Allele Identifier: CA400481359

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144109257
• gnomAD v4: 17-61685898-C-T
• MyVariant Identifiers: chr17:g.59763259C>T (hg19) ; chr17:g.61685898C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685898C>T , CM000679.2:g.61685898C>T	GRCh38
NC_000017.10:g.59763259C>T , CM000679.1:g.59763259C>T	GRCh37
NC_000017.9:g.57118041C>T	NCBI36
NG_007409.2:g.182662G>A , LRG_300:g.182662G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2973G>A	ENSP00000507191.1:n.2973G>A
ENST00000682073.1:n.1583G>A
ENST00000682433.1:n.1922G>A
ENST00000682453.1:c.2843G>A	ENSP00000506943.1:p.Cys948Tyr
ENST00000682477.1:c.*2269G>A	ENSP00000507075.1:n.*2269G>A
ENST00000682589.1:n.8720G>A
ENST00000682755.1:c.2621G>A	ENSP00000507660.1:p.Cys874Tyr
ENST00000682989.1:c.2610-1758G>A	ENSP00000507786.1:n.2610-1758G>A
ENST00000683039.1:c.2843G>A	ENSP00000508303.1:p.Cys948Tyr
ENST00000683235.1:c.*258G>A	ENSP00000507646.1:n.*258G>A
ENST00000683535.1:n.973G>A
ENST00000684471.1:n.1256G>A
ENST00000684584.1:c.2069-1758G>A	ENSP00000508044.1:n.2069-1758G>A
ENST00000684626.1:n.1089G>A
ENST00000684769.1:c.1033G>A	ENSP00000507691.1:n.1033G>A
ENST00000259008.7:c.2843G>A MANE Select	ENSP00000259008.2:p.Cys948Tyr
ENST00000259008.6:c.2843G>A	ENSP00000259008.2:p.Cys948Tyr
ENST00000577598.5:c.2843G>A	ENSP00000464654.1:p.Cys948Tyr
NM_032043.2:c.2843G>A , LRG_300t1:c.2843G>A	NP_114432.2:p.Cys948Tyr
XM_011525332.1:c.2903G>A	XP_011523634.1:p.Cys968Tyr
XM_011525333.1:c.2903G>A	XP_011523635.1:p.Cys968Tyr
XM_011525334.1:c.2903G>A	XP_011523636.1:p.Cys968Tyr
XM_011525335.1:c.2843G>A	XP_011523637.1:p.Cys948Tyr
XM_011525336.1:c.2783G>A	XP_011523638.1:p.Cys928Tyr
XM_011525337.1:c.2702G>A	XP_011523639.1:p.Cys901Tyr
XM_011525338.1:c.2420G>A	XP_011523640.1:p.Cys807Tyr
XM_011525332.3:c.2903G>A	XP_011523634.1:p.Cys968Tyr
XM_011525333.3:c.2903G>A	XP_011523635.1:p.Cys968Tyr
XM_011525334.2:c.2903G>A	XP_011523636.1:p.Cys968Tyr
XM_011525335.3:c.2843G>A	XP_011523637.1:p.Cys948Tyr
XM_011525336.2:c.2783G>A	XP_011523638.1:p.Cys928Tyr
XM_011525337.2:c.2702G>A	XP_011523639.1:p.Cys901Tyr
XM_011525338.2:c.2420G>A	XP_011523640.1:p.Cys807Tyr
XM_017025200.1:c.2360G>A	XP_016880689.1:p.Cys787Tyr
XM_017025201.1:c.2360G>A	XP_016880690.1:p.Cys787Tyr
XM_017025202.1:c.989G>A	XP_016880691.1:p.Cys330Tyr
XM_017025203.1:c.989G>A	XP_016880692.1:p.Cys330Tyr
NM_032043.3:c.2843G>A MANE Select	NP_114432.2:p.Cys948Tyr