Canonical Allele Identifier: CA400481321

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59763251T>A (hg19) ; chr17:g.61685890T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685890T>A , CM000679.2:g.61685890T>A	GRCh38
NC_000017.10:g.59763251T>A , CM000679.1:g.59763251T>A	GRCh37
NC_000017.9:g.57118033T>A	NCBI36
NG_007409.2:g.182670A>T , LRG_300:g.182670A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2981A>T	ENSP00000507191.1:n.2981A>T
ENST00000682073.1:n.1591A>T
ENST00000682433.1:n.1930A>T
ENST00000682453.1:c.2851A>T	ENSP00000506943.1:p.Ile951Phe
ENST00000682477.1:c.*2277A>T	ENSP00000507075.1:n.*2277A>T
ENST00000682589.1:n.8728A>T
ENST00000682755.1:c.2629A>T	ENSP00000507660.1:p.Ile877Phe
ENST00000682989.1:c.2610-1750A>T	ENSP00000507786.1:n.2610-1750A>T
ENST00000683039.1:c.2851A>T	ENSP00000508303.1:p.Ile951Phe
ENST00000683235.1:c.*266A>T	ENSP00000507646.1:n.*266A>T
ENST00000683535.1:n.981A>T
ENST00000684471.1:n.1264A>T
ENST00000684584.1:c.2069-1750A>T	ENSP00000508044.1:n.2069-1750A>T
ENST00000684626.1:n.1097A>T
ENST00000684769.1:c.1041A>T	ENSP00000507691.1:n.1041A>T
ENST00000259008.7:c.2851A>T MANE Select	ENSP00000259008.2:p.Ile951Phe
ENST00000259008.6:c.2851A>T	ENSP00000259008.2:p.Ile951Phe
ENST00000577598.5:c.2851A>T	ENSP00000464654.1:p.Ile951Phe
NM_032043.2:c.2851A>T , LRG_300t1:c.2851A>T	NP_114432.2:p.Ile951Phe
XM_011525332.1:c.2911A>T	XP_011523634.1:p.Ile971Phe
XM_011525333.1:c.2911A>T	XP_011523635.1:p.Ile971Phe
XM_011525334.1:c.2911A>T	XP_011523636.1:p.Ile971Phe
XM_011525335.1:c.2851A>T	XP_011523637.1:p.Ile951Phe
XM_011525336.1:c.2791A>T	XP_011523638.1:p.Ile931Phe
XM_011525337.1:c.2710A>T	XP_011523639.1:p.Ile904Phe
XM_011525338.1:c.2428A>T	XP_011523640.1:p.Ile810Phe
XM_011525332.3:c.2911A>T	XP_011523634.1:p.Ile971Phe
XM_011525333.3:c.2911A>T	XP_011523635.1:p.Ile971Phe
XM_011525334.2:c.2911A>T	XP_011523636.1:p.Ile971Phe
XM_011525335.3:c.2851A>T	XP_011523637.1:p.Ile951Phe
XM_011525336.2:c.2791A>T	XP_011523638.1:p.Ile931Phe
XM_011525337.2:c.2710A>T	XP_011523639.1:p.Ile904Phe
XM_011525338.2:c.2428A>T	XP_011523640.1:p.Ile810Phe
XM_017025200.1:c.2368A>T	XP_016880689.1:p.Ile790Phe
XM_017025201.1:c.2368A>T	XP_016880690.1:p.Ile790Phe
XM_017025202.1:c.997A>T	XP_016880691.1:p.Ile333Phe
XM_017025203.1:c.997A>T	XP_016880692.1:p.Ile333Phe
NM_032043.3:c.2851A>T MANE Select	NP_114432.2:p.Ile951Phe