Canonical Allele Identifier: CA400481582

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685978A>C , CM000679.2:g.61685978A>C	GRCh38
NC_000017.10:g.59763339A>C , CM000679.1:g.59763339A>C	GRCh37
NC_000017.9:g.57118121A>C	NCBI36
NG_007409.2:g.182582T>G , LRG_300:g.182582T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2763T>G MANE Select	NP_114432.2:p.Tyr921Ter
ENST00000259008.7:c.2763T>G MANE Select	ENSP00000259008.2:p.Tyr921Ter
NM_032043.2:c.2763T>G , LRG_300t1:c.2763T>G	NP_114432.2:p.Tyr921Ter
ENST00000259008.6:c.2763T>G	ENSP00000259008.2:p.Tyr921Ter
ENST00000577598.5:c.2763T>G	ENSP00000464654.1:p.Tyr921Ter
ENST00000682066.1:c.2893T>G	ENSP00000507191.1:n.2893T>G
ENST00000682073.1:n.1503T>G
ENST00000682433.1:n.1842T>G
ENST00000682453.1:c.2763T>G	ENSP00000506943.1:p.Tyr921Ter
ENST00000682477.1:c.*2189T>G	ENSP00000507075.1:n.*2189T>G
ENST00000682589.1:n.8640T>G
ENST00000682755.1:c.2541T>G	ENSP00000507660.1:p.Tyr847Ter
ENST00000682989.1:c.2610-1838T>G	ENSP00000507786.1:n.2610-1838T>G
ENST00000683039.1:c.2763T>G	ENSP00000508303.1:p.Tyr921Ter
ENST00000683235.1:c.*178T>G	ENSP00000507646.1:n.*178T>G
ENST00000683535.1:n.893T>G
ENST00000684471.1:n.1176T>G
ENST00000684584.1:c.2069-1838T>G	ENSP00000508044.1:n.2069-1838T>G
ENST00000684626.1:n.1009T>G
ENST00000684769.1:c.953T>G	ENSP00000507691.1:n.953T>G
XM_011525332.1:c.2823T>G	XP_011523634.1:p.Tyr941Ter
XM_011525332.3:c.2823T>G	XP_011523634.1:p.Tyr941Ter
XM_011525333.1:c.2823T>G	XP_011523635.1:p.Tyr941Ter
XM_011525333.3:c.2823T>G	XP_011523635.1:p.Tyr941Ter
XM_011525334.1:c.2823T>G	XP_011523636.1:p.Tyr941Ter
XM_011525334.2:c.2823T>G	XP_011523636.1:p.Tyr941Ter
XM_011525335.1:c.2763T>G	XP_011523637.1:p.Tyr921Ter
XM_011525335.3:c.2763T>G	XP_011523637.1:p.Tyr921Ter
XM_011525336.1:c.2703T>G	XP_011523638.1:p.Tyr901Ter
XM_011525336.2:c.2703T>G	XP_011523638.1:p.Tyr901Ter
XM_011525337.1:c.2622T>G	XP_011523639.1:p.Tyr874Ter
XM_011525337.2:c.2622T>G	XP_011523639.1:p.Tyr874Ter
XM_011525338.1:c.2340T>G	XP_011523640.1:p.Tyr780Ter
XM_011525338.2:c.2340T>G	XP_011523640.1:p.Tyr780Ter
XM_017025200.1:c.2280T>G	XP_016880689.1:p.Tyr760Ter
XM_017025201.1:c.2280T>G	XP_016880690.1:p.Tyr760Ter
XM_017025202.1:c.909T>G	XP_016880691.1:p.Tyr303Ter
XM_017025203.1:c.909T>G	XP_016880692.1:p.Tyr303Ter