Canonical Allele Identifier: CA10580779

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 233788
• ClinVar RCV Id: RCV000217837 ; RCV003765440
• dbSNP Id: rs876660638
• MyVariant Identifiers: chr17:g.59761130G>A (hg19) ; chr17:g.61683769G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683769G>A , CM000679.2:g.61683769G>A	GRCh38
NC_000017.10:g.59761130G>A , CM000679.1:g.59761130G>A	GRCh37
NC_000017.9:g.57115912G>A	NCBI36
NG_007409.2:g.184791C>T , LRG_300:g.184791C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2017C>T
ENST00000682453.1:c.3277C>T	ENSP00000506943.1:p.Leu1093Phe
ENST00000682477.1:c.*2703C>T	ENSP00000507075.1:n.*2703C>T
ENST00000682589.1:n.9154C>T
ENST00000682755.1:c.3055C>T	ENSP00000507660.1:p.Leu1019Phe
ENST00000682989.1:c.*368C>T	ENSP00000507786.1:n.*368C>T
ENST00000683039.1:c.3277C>T	ENSP00000508303.1:p.Leu1093Phe
ENST00000683235.1:c.*692C>T	ENSP00000507646.1:n.*692C>T
ENST00000683535.1:n.1407C>T
ENST00000684584.1:c.2440C>T	ENSP00000508044.1:p.Leu814Phe
ENST00000684626.1:n.1523C>T
ENST00000684769.1:c.1467C>T	ENSP00000507691.1:n.1467C>T
ENST00000259008.7:c.3277C>T MANE Select	ENSP00000259008.2:p.Leu1093Phe
ENST00000259008.6:c.3277C>T	ENSP00000259008.2:p.Leu1093Phe
NM_032043.2:c.3277C>T , LRG_300t1:c.3277C>T	NP_114432.2:p.Leu1093Phe
XM_011525332.1:c.3337C>T	XP_011523634.1:p.Leu1113Phe
XM_011525333.1:c.3337C>T	XP_011523635.1:p.Leu1113Phe
XM_011525334.1:c.3337C>T	XP_011523636.1:p.Leu1113Phe
XM_011525335.1:c.3277C>T	XP_011523637.1:p.Leu1093Phe
XM_011525336.1:c.3217C>T	XP_011523638.1:p.Leu1073Phe
XM_011525337.1:c.3136C>T	XP_011523639.1:p.Leu1046Phe
XM_011525338.1:c.2854C>T	XP_011523640.1:p.Leu952Phe
XM_011525332.3:c.3337C>T	XP_011523634.1:p.Leu1113Phe
XM_011525333.3:c.3337C>T	XP_011523635.1:p.Leu1113Phe
XM_011525334.2:c.3337C>T	XP_011523636.1:p.Leu1113Phe
XM_011525335.3:c.3277C>T	XP_011523637.1:p.Leu1093Phe
XM_011525336.2:c.3217C>T	XP_011523638.1:p.Leu1073Phe
XM_011525337.2:c.3136C>T	XP_011523639.1:p.Leu1046Phe
XM_011525338.2:c.2854C>T	XP_011523640.1:p.Leu952Phe
XM_017025200.1:c.2794C>T	XP_016880689.1:p.Leu932Phe
XM_017025201.1:c.2794C>T	XP_016880690.1:p.Leu932Phe
XM_017025202.1:c.1423C>T	XP_016880691.1:p.Leu475Phe
XM_017025203.1:c.1423C>T	XP_016880692.1:p.Leu475Phe
NM_032043.3:c.3277C>T MANE Select	NP_114432.2:p.Leu1093Phe