Canonical Allele Identifier: CA400478893

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59761045A>C (hg19) ; chr17:g.61683684A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683684A>C , CM000679.2:g.61683684A>C	GRCh38
NC_000017.10:g.59761045A>C , CM000679.1:g.59761045A>C	GRCh37
NC_000017.9:g.57115827A>C	NCBI36
NG_007409.2:g.184876T>G , LRG_300:g.184876T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2102T>G
ENST00000682453.1:c.3362T>G	ENSP00000506943.1:p.Phe1121Cys
ENST00000682477.1:c.*2788T>G	ENSP00000507075.1:n.*2788T>G
ENST00000682589.1:n.9239T>G
ENST00000682755.1:c.3140T>G	ENSP00000507660.1:p.Phe1047Cys
ENST00000682989.1:c.*453T>G	ENSP00000507786.1:n.*453T>G
ENST00000683039.1:c.3362T>G	ENSP00000508303.1:p.Phe1121Cys
ENST00000683235.1:c.*777T>G	ENSP00000507646.1:n.*777T>G
ENST00000683535.1:n.1492T>G
ENST00000684584.1:c.2525T>G	ENSP00000508044.1:p.Phe842Cys
ENST00000684626.1:n.1608T>G
ENST00000684769.1:c.1552T>G	ENSP00000507691.1:n.1552T>G
ENST00000259008.7:c.3362T>G MANE Select	ENSP00000259008.2:p.Phe1121Cys
ENST00000259008.6:c.3362T>G	ENSP00000259008.2:p.Phe1121Cys
NM_032043.2:c.3362T>G , LRG_300t1:c.3362T>G	NP_114432.2:p.Phe1121Cys
XM_011525332.1:c.3422T>G	XP_011523634.1:p.Phe1141Cys
XM_011525333.1:c.3422T>G	XP_011523635.1:p.Phe1141Cys
XM_011525334.1:c.3422T>G	XP_011523636.1:p.Phe1141Cys
XM_011525335.1:c.3362T>G	XP_011523637.1:p.Phe1121Cys
XM_011525336.1:c.3302T>G	XP_011523638.1:p.Phe1101Cys
XM_011525337.1:c.3221T>G	XP_011523639.1:p.Phe1074Cys
XM_011525338.1:c.2939T>G	XP_011523640.1:p.Phe980Cys
XM_011525332.3:c.3422T>G	XP_011523634.1:p.Phe1141Cys
XM_011525333.3:c.3422T>G	XP_011523635.1:p.Phe1141Cys
XM_011525334.2:c.3422T>G	XP_011523636.1:p.Phe1141Cys
XM_011525335.3:c.3362T>G	XP_011523637.1:p.Phe1121Cys
XM_011525336.2:c.3302T>G	XP_011523638.1:p.Phe1101Cys
XM_011525337.2:c.3221T>G	XP_011523639.1:p.Phe1074Cys
XM_011525338.2:c.2939T>G	XP_011523640.1:p.Phe980Cys
XM_017025200.1:c.2879T>G	XP_016880689.1:p.Phe960Cys
XM_017025201.1:c.2879T>G	XP_016880690.1:p.Phe960Cys
XM_017025202.1:c.1508T>G	XP_016880691.1:p.Phe503Cys
XM_017025203.1:c.1508T>G	XP_016880692.1:p.Phe503Cys
NM_032043.3:c.3362T>G MANE Select	NP_114432.2:p.Phe1121Cys