Canonical Allele Identifier: CA400482543

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59820385T>A (hg19) ; chr17:g.61743024T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743024T>A , CM000679.2:g.61743024T>A	GRCh38
NC_000017.10:g.59820385T>A , CM000679.1:g.59820385T>A	GRCh37
NC_000017.9:g.57175167T>A	NCBI36
NG_007409.2:g.125536A>T , LRG_300:g.125536A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2368A>T	ENSP00000463272.2:p.Lys790Ter
ENST00000682066.1:c.2498A>T	ENSP00000507191.1:n.2498A>T
ENST00000682073.1:n.1108A>T
ENST00000682433.1:n.1447A>T
ENST00000682453.1:c.2368A>T	ENSP00000506943.1:p.Lys790Ter
ENST00000682477.1:c.*1794A>T	ENSP00000507075.1:n.*1794A>T
ENST00000682589.1:n.8245A>T
ENST00000682755.1:c.2146A>T	ENSP00000507660.1:p.Lys716Ter
ENST00000682989.1:c.2368A>T	ENSP00000507786.1:p.Lys790Ter
ENST00000683039.1:c.2368A>T	ENSP00000508303.1:p.Lys790Ter
ENST00000683235.1:c.2368A>T	ENSP00000507646.1:p.Lys790Ter
ENST00000683381.1:c.2428A>T	ENSP00000508184.1:p.Lys810Ter
ENST00000683535.1:n.498A>T
ENST00000684471.1:n.781A>T
ENST00000684584.1:c.1861A>T	ENSP00000508044.1:p.Lys621Ter
ENST00000684769.1:c.433A>T	ENSP00000507691.1:p.Lys145Ter
ENST00000259008.7:c.2368A>T MANE Select	ENSP00000259008.2:p.Lys790Ter
ENST00000259008.6:c.2368A>T	ENSP00000259008.2:p.Lys790Ter
ENST00000577598.5:c.2368A>T	ENSP00000464654.1:p.Lys790Ter
ENST00000584322.1:c.351A>T
NM_032043.2:c.2368A>T , LRG_300t1:c.2368A>T	NP_114432.2:p.Lys790Ter
XM_011525332.1:c.2428A>T	XP_011523634.1:p.Lys810Ter
XM_011525333.1:c.2428A>T	XP_011523635.1:p.Lys810Ter
XM_011525334.1:c.2428A>T	XP_011523636.1:p.Lys810Ter
XM_011525335.1:c.2368A>T	XP_011523637.1:p.Lys790Ter
XM_011525336.1:c.2308A>T	XP_011523638.1:p.Lys770Ter
XM_011525337.1:c.2227A>T	XP_011523639.1:p.Lys743Ter
XM_011525338.1:c.1945A>T	XP_011523640.1:p.Lys649Ter
XM_011525339.1:c.2428A>T	XP_011523641.1:p.Lys810Ter
XM_011525340.1:c.2428A>T	XP_011523642.1:p.Lys810Ter
XR_934894.1:n.524-1157T>A
XM_011525332.3:c.2428A>T	XP_011523634.1:p.Lys810Ter
XM_011525333.3:c.2428A>T	XP_011523635.1:p.Lys810Ter
XM_011525334.2:c.2428A>T	XP_011523636.1:p.Lys810Ter
XM_011525335.3:c.2368A>T	XP_011523637.1:p.Lys790Ter
XM_011525336.2:c.2308A>T	XP_011523638.1:p.Lys770Ter
XM_011525337.2:c.2227A>T	XP_011523639.1:p.Lys743Ter
XM_011525338.2:c.1945A>T	XP_011523640.1:p.Lys649Ter
XM_011525339.3:c.2428A>T	XP_011523641.1:p.Lys810Ter
XM_011525340.3:c.2428A>T	XP_011523642.1:p.Lys810Ter
XM_017025200.1:c.1885A>T	XP_016880689.1:p.Lys629Ter
XM_017025201.1:c.1885A>T	XP_016880690.1:p.Lys629Ter
XM_017025202.1:c.514A>T	XP_016880691.1:p.Lys172Ter
XM_017025203.1:c.514A>T	XP_016880692.1:p.Lys172Ter
NM_032043.3:c.2368A>T MANE Select	NP_114432.2:p.Lys790Ter