Canonical Allele Identifier: CA400478246

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61776463G>A , CM000679.2:g.61776463G>A	GRCh38
NC_000017.10:g.59853824G>A , CM000679.1:g.59853824G>A	GRCh37
NC_000017.9:g.57208606G>A	NCBI36
NG_007409.2:g.92097C>T , LRG_300:g.92097C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2035C>T MANE Select	NP_114432.2:p.Leu679Phe
ENST00000259008.7:c.2035C>T MANE Select	ENSP00000259008.2:p.Leu679Phe
NM_032043.2:c.2035C>T , LRG_300t1:c.2035C>T	NP_114432.2:p.Leu679Phe
ENST00000259008.6:c.2035C>T	ENSP00000259008.2:p.Leu679Phe
ENST00000577598.5:c.2035C>T	ENSP00000464654.1:p.Leu679Phe
ENST00000579028.1:c.728C>T
ENST00000579028.2:c.1617C>T	ENSP00000463827.2:n.1617C>T
ENST00000583837.5:n.117C>T
ENST00000584322.1:c.18C>T
ENST00000584322.2:c.2035C>T	ENSP00000463272.2:p.Leu679Phe
ENST00000682066.1:c.1528C>T	ENSP00000507191.1:p.Leu510Phe
ENST00000682073.1:n.775C>T
ENST00000682433.1:n.1114C>T
ENST00000682453.1:c.2035C>T	ENSP00000506943.1:p.Leu679Phe
ENST00000682477.1:c.*1461C>T	ENSP00000507075.1:n.*1461C>T
ENST00000682589.1:n.7912C>T
ENST00000682611.1:c.1694C>T	ENSP00000508326.1:n.1694C>T
ENST00000682755.1:c.1813C>T	ENSP00000507660.1:p.Leu605Phe
ENST00000682989.1:c.2035C>T	ENSP00000507786.1:p.Leu679Phe
ENST00000683039.1:c.2035C>T	ENSP00000508303.1:p.Leu679Phe
ENST00000683235.1:c.2035C>T	ENSP00000507646.1:p.Leu679Phe
ENST00000683381.1:c.2095C>T	ENSP00000508184.1:p.Leu699Phe
ENST00000683535.1:n.165C>T
ENST00000684471.1:n.448C>T
ENST00000684584.1:c.1528C>T	ENSP00000508044.1:p.Leu510Phe
ENST00000684769.1:c.100C>T	ENSP00000507691.1:p.Leu34Phe
XM_011525332.1:c.2095C>T	XP_011523634.1:p.Leu699Phe
XM_011525332.3:c.2095C>T	XP_011523634.1:p.Leu699Phe
XM_011525333.1:c.2095C>T	XP_011523635.1:p.Leu699Phe
XM_011525333.3:c.2095C>T	XP_011523635.1:p.Leu699Phe
XM_011525334.1:c.2095C>T	XP_011523636.1:p.Leu699Phe
XM_011525334.2:c.2095C>T	XP_011523636.1:p.Leu699Phe
XM_011525335.1:c.2035C>T	XP_011523637.1:p.Leu679Phe
XM_011525335.3:c.2035C>T	XP_011523637.1:p.Leu679Phe
XM_011525336.1:c.1975C>T	XP_011523638.1:p.Leu659Phe
XM_011525336.2:c.1975C>T	XP_011523638.1:p.Leu659Phe
XM_011525337.1:c.1894C>T	XP_011523639.1:p.Leu632Phe
XM_011525337.2:c.1894C>T	XP_011523639.1:p.Leu632Phe
XM_011525338.1:c.1612C>T	XP_011523640.1:p.Leu538Phe
XM_011525338.2:c.1612C>T	XP_011523640.1:p.Leu538Phe
XM_011525339.1:c.2095C>T	XP_011523641.1:p.Leu699Phe
XM_011525339.3:c.2095C>T	XP_011523641.1:p.Leu699Phe
XM_011525340.1:c.2095C>T	XP_011523642.1:p.Leu699Phe
XM_011525340.3:c.2095C>T	XP_011523642.1:p.Leu699Phe
XM_017025200.1:c.1552C>T	XP_016880689.1:p.Leu518Phe
XM_017025201.1:c.1552C>T	XP_016880690.1:p.Leu518Phe
XM_017025202.1:c.181C>T	XP_016880691.1:p.Leu61Phe
XM_017025203.1:c.181C>T	XP_016880692.1:p.Leu61Phe