Canonical Allele Identifier: CA400482550

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59820389A>C (hg19) ; chr17:g.61743028A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743028A>C , CM000679.2:g.61743028A>C	GRCh38
NC_000017.10:g.59820389A>C , CM000679.1:g.59820389A>C	GRCh37
NC_000017.9:g.57175171A>C	NCBI36
NG_007409.2:g.125532T>G , LRG_300:g.125532T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2364T>G	ENSP00000463272.2:p.Asn788Lys
ENST00000682066.1:c.2494T>G	ENSP00000507191.1:n.2494T>G
ENST00000682073.1:n.1104T>G
ENST00000682433.1:n.1443T>G
ENST00000682453.1:c.2364T>G	ENSP00000506943.1:p.Asn788Lys
ENST00000682477.1:c.*1790T>G	ENSP00000507075.1:n.*1790T>G
ENST00000682589.1:n.8241T>G
ENST00000682755.1:c.2142T>G	ENSP00000507660.1:p.Asn714Lys
ENST00000682989.1:c.2364T>G	ENSP00000507786.1:p.Asn788Lys
ENST00000683039.1:c.2364T>G	ENSP00000508303.1:p.Asn788Lys
ENST00000683235.1:c.2364T>G	ENSP00000507646.1:p.Asn788Lys
ENST00000683381.1:c.2424T>G	ENSP00000508184.1:p.Asn808Lys
ENST00000683535.1:n.494T>G
ENST00000684471.1:n.777T>G
ENST00000684584.1:c.1857T>G	ENSP00000508044.1:p.Asn619Lys
ENST00000684769.1:c.429T>G	ENSP00000507691.1:p.Asn143Lys
ENST00000259008.7:c.2364T>G MANE Select	ENSP00000259008.2:p.Asn788Lys
ENST00000259008.6:c.2364T>G	ENSP00000259008.2:p.Asn788Lys
ENST00000577598.5:c.2364T>G	ENSP00000464654.1:p.Asn788Lys
ENST00000584322.1:c.347T>G
NM_032043.2:c.2364T>G , LRG_300t1:c.2364T>G	NP_114432.2:p.Asn788Lys
XM_011525332.1:c.2424T>G	XP_011523634.1:p.Asn808Lys
XM_011525333.1:c.2424T>G	XP_011523635.1:p.Asn808Lys
XM_011525334.1:c.2424T>G	XP_011523636.1:p.Asn808Lys
XM_011525335.1:c.2364T>G	XP_011523637.1:p.Asn788Lys
XM_011525336.1:c.2304T>G	XP_011523638.1:p.Asn768Lys
XM_011525337.1:c.2223T>G	XP_011523639.1:p.Asn741Lys
XM_011525338.1:c.1941T>G	XP_011523640.1:p.Asn647Lys
XM_011525339.1:c.2424T>G	XP_011523641.1:p.Asn808Lys
XM_011525340.1:c.2424T>G	XP_011523642.1:p.Asn808Lys
XR_934894.1:n.524-1153A>C
XM_011525332.3:c.2424T>G	XP_011523634.1:p.Asn808Lys
XM_011525333.3:c.2424T>G	XP_011523635.1:p.Asn808Lys
XM_011525334.2:c.2424T>G	XP_011523636.1:p.Asn808Lys
XM_011525335.3:c.2364T>G	XP_011523637.1:p.Asn788Lys
XM_011525336.2:c.2304T>G	XP_011523638.1:p.Asn768Lys
XM_011525337.2:c.2223T>G	XP_011523639.1:p.Asn741Lys
XM_011525338.2:c.1941T>G	XP_011523640.1:p.Asn647Lys
XM_011525339.3:c.2424T>G	XP_011523641.1:p.Asn808Lys
XM_011525340.3:c.2424T>G	XP_011523642.1:p.Asn808Lys
XM_017025200.1:c.1881T>G	XP_016880689.1:p.Asn627Lys
XM_017025201.1:c.1881T>G	XP_016880690.1:p.Asn627Lys
XM_017025202.1:c.510T>G	XP_016880691.1:p.Asn170Lys
XM_017025203.1:c.510T>G	XP_016880692.1:p.Asn170Lys
NM_032043.3:c.2364T>G MANE Select	NP_114432.2:p.Asn788Lys