Canonical Allele Identifier: CA400478991

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2564610
• ClinVar RCV Id: RCV003297042
• dbSNP Id: rs2144080366
• MyVariant Identifiers: chr17:g.59761090G>A (hg19) ; chr17:g.61683729G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683729G>A , CM000679.2:g.61683729G>A	GRCh38
NC_000017.10:g.59761090G>A , CM000679.1:g.59761090G>A	GRCh37
NC_000017.9:g.57115872G>A	NCBI36
NG_007409.2:g.184831C>T , LRG_300:g.184831C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2057C>T
ENST00000682453.1:c.3317C>T	ENSP00000506943.1:p.Ser1106Phe
ENST00000682477.1:c.*2743C>T	ENSP00000507075.1:n.*2743C>T
ENST00000682589.1:n.9194C>T
ENST00000682755.1:c.3095C>T	ENSP00000507660.1:p.Ser1032Phe
ENST00000682989.1:c.*408C>T	ENSP00000507786.1:n.*408C>T
ENST00000683039.1:c.3317C>T	ENSP00000508303.1:p.Ser1106Phe
ENST00000683235.1:c.*732C>T	ENSP00000507646.1:n.*732C>T
ENST00000683535.1:n.1447C>T
ENST00000684584.1:c.2480C>T	ENSP00000508044.1:p.Ser827Phe
ENST00000684626.1:n.1563C>T
ENST00000684769.1:c.1507C>T	ENSP00000507691.1:n.1507C>T
ENST00000259008.7:c.3317C>T MANE Select	ENSP00000259008.2:p.Ser1106Phe
ENST00000259008.6:c.3317C>T	ENSP00000259008.2:p.Ser1106Phe
NM_032043.2:c.3317C>T , LRG_300t1:c.3317C>T	NP_114432.2:p.Ser1106Phe
XM_011525332.1:c.3377C>T	XP_011523634.1:p.Ser1126Phe
XM_011525333.1:c.3377C>T	XP_011523635.1:p.Ser1126Phe
XM_011525334.1:c.3377C>T	XP_011523636.1:p.Ser1126Phe
XM_011525335.1:c.3317C>T	XP_011523637.1:p.Ser1106Phe
XM_011525336.1:c.3257C>T	XP_011523638.1:p.Ser1086Phe
XM_011525337.1:c.3176C>T	XP_011523639.1:p.Ser1059Phe
XM_011525338.1:c.2894C>T	XP_011523640.1:p.Ser965Phe
XM_011525332.3:c.3377C>T	XP_011523634.1:p.Ser1126Phe
XM_011525333.3:c.3377C>T	XP_011523635.1:p.Ser1126Phe
XM_011525334.2:c.3377C>T	XP_011523636.1:p.Ser1126Phe
XM_011525335.3:c.3317C>T	XP_011523637.1:p.Ser1106Phe
XM_011525336.2:c.3257C>T	XP_011523638.1:p.Ser1086Phe
XM_011525337.2:c.3176C>T	XP_011523639.1:p.Ser1059Phe
XM_011525338.2:c.2894C>T	XP_011523640.1:p.Ser965Phe
XM_017025200.1:c.2834C>T	XP_016880689.1:p.Ser945Phe
XM_017025201.1:c.2834C>T	XP_016880690.1:p.Ser945Phe
XM_017025202.1:c.1463C>T	XP_016880691.1:p.Ser488Phe
XM_017025203.1:c.1463C>T	XP_016880692.1:p.Ser488Phe
NM_032043.3:c.3317C>T MANE Select	NP_114432.2:p.Ser1106Phe