Canonical Allele Identifier: CA400482575

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144675897
• MyVariant Identifiers: chr17:g.59820400G>C (hg19) ; chr17:g.61743039G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743039G>C , CM000679.2:g.61743039G>C	GRCh38
NC_000017.10:g.59820400G>C , CM000679.1:g.59820400G>C	GRCh37
NC_000017.9:g.57175182G>C	NCBI36
NG_007409.2:g.125521C>G , LRG_300:g.125521C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2353C>G	ENSP00000463272.2:p.Pro785Ala
ENST00000682066.1:c.2483C>G	ENSP00000507191.1:n.2483C>G
ENST00000682073.1:n.1093C>G
ENST00000682433.1:n.1432C>G
ENST00000682453.1:c.2353C>G	ENSP00000506943.1:p.Pro785Ala
ENST00000682477.1:c.*1779C>G	ENSP00000507075.1:n.*1779C>G
ENST00000682589.1:n.8230C>G
ENST00000682755.1:c.2131C>G	ENSP00000507660.1:p.Pro711Ala
ENST00000682989.1:c.2353C>G	ENSP00000507786.1:p.Pro785Ala
ENST00000683039.1:c.2353C>G	ENSP00000508303.1:p.Pro785Ala
ENST00000683235.1:c.2353C>G	ENSP00000507646.1:p.Pro785Ala
ENST00000683381.1:c.2413C>G	ENSP00000508184.1:p.Pro805Ala
ENST00000683535.1:n.483C>G
ENST00000684471.1:n.766C>G
ENST00000684584.1:c.1846C>G	ENSP00000508044.1:p.Pro616Ala
ENST00000684769.1:c.418C>G	ENSP00000507691.1:p.Pro140Ala
ENST00000259008.7:c.2353C>G MANE Select	ENSP00000259008.2:p.Pro785Ala
ENST00000259008.6:c.2353C>G	ENSP00000259008.2:p.Pro785Ala
ENST00000577598.5:c.2353C>G	ENSP00000464654.1:p.Pro785Ala
ENST00000584322.1:c.336C>G
NM_032043.2:c.2353C>G , LRG_300t1:c.2353C>G	NP_114432.2:p.Pro785Ala
XM_011525332.1:c.2413C>G	XP_011523634.1:p.Pro805Ala
XM_011525333.1:c.2413C>G	XP_011523635.1:p.Pro805Ala
XM_011525334.1:c.2413C>G	XP_011523636.1:p.Pro805Ala
XM_011525335.1:c.2353C>G	XP_011523637.1:p.Pro785Ala
XM_011525336.1:c.2293C>G	XP_011523638.1:p.Pro765Ala
XM_011525337.1:c.2212C>G	XP_011523639.1:p.Pro738Ala
XM_011525338.1:c.1930C>G	XP_011523640.1:p.Pro644Ala
XM_011525339.1:c.2413C>G	XP_011523641.1:p.Pro805Ala
XM_011525340.1:c.2413C>G	XP_011523642.1:p.Pro805Ala
XR_934894.1:n.524-1142G>C
XM_011525332.3:c.2413C>G	XP_011523634.1:p.Pro805Ala
XM_011525333.3:c.2413C>G	XP_011523635.1:p.Pro805Ala
XM_011525334.2:c.2413C>G	XP_011523636.1:p.Pro805Ala
XM_011525335.3:c.2353C>G	XP_011523637.1:p.Pro785Ala
XM_011525336.2:c.2293C>G	XP_011523638.1:p.Pro765Ala
XM_011525337.2:c.2212C>G	XP_011523639.1:p.Pro738Ala
XM_011525338.2:c.1930C>G	XP_011523640.1:p.Pro644Ala
XM_011525339.3:c.2413C>G	XP_011523641.1:p.Pro805Ala
XM_011525340.3:c.2413C>G	XP_011523642.1:p.Pro805Ala
XM_017025200.1:c.1870C>G	XP_016880689.1:p.Pro624Ala
XM_017025201.1:c.1870C>G	XP_016880690.1:p.Pro624Ala
XM_017025202.1:c.499C>G	XP_016880691.1:p.Pro167Ala
XM_017025203.1:c.499C>G	XP_016880692.1:p.Pro167Ala
NM_032043.3:c.2353C>G MANE Select	NP_114432.2:p.Pro785Ala