Canonical Allele Identifier: CA288538

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 128164
• ClinVar RCV Id: RCV000116132 ; RCV000546290
• dbSNP Id: rs587780232
• MyVariant Identifiers: chr17:g.59857659A>G (hg19) ; chr17:g.61780298A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61780298A>G , CM000679.2:g.61780298A>G	GRCh38
NC_000017.10:g.59857659A>G , CM000679.1:g.59857659A>G	GRCh37
NC_000017.9:g.57212441A>G	NCBI36
NG_007409.2:g.88262T>C , LRG_300:g.88262T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.1480T>C	ENSP00000463827.2:n.1480T>C
ENST00000584322.2:c.1898T>C	ENSP00000463272.2:p.Ile633Thr
ENST00000682066.1:c.1391T>C	ENSP00000507191.1:p.Ile464Thr
ENST00000682073.1:n.638T>C
ENST00000682453.1:c.1898T>C	ENSP00000506943.1:p.Ile633Thr
ENST00000682477.1:c.*1324T>C	ENSP00000507075.1:n.*1324T>C
ENST00000682589.1:n.4077T>C
ENST00000682611.1:c.1391T>C	ENSP00000508326.1:p.Ile464Thr
ENST00000682755.1:c.1676T>C	ENSP00000507660.1:p.Ile559Thr
ENST00000682989.1:c.1898T>C	ENSP00000507786.1:p.Ile633Thr
ENST00000683039.1:c.1898T>C	ENSP00000508303.1:p.Ile633Thr
ENST00000683235.1:c.1898T>C	ENSP00000507646.1:p.Ile633Thr
ENST00000683381.1:c.1898T>C	ENSP00000508184.1:p.Ile633Thr
ENST00000684471.1:n.371T>C
ENST00000684584.1:c.1391T>C	ENSP00000508044.1:p.Ile464Thr
ENST00000259008.7:c.1898T>C MANE Select	ENSP00000259008.2:p.Ile633Thr
ENST00000259008.6:c.1898T>C	ENSP00000259008.2:p.Ile633Thr
ENST00000577598.5:c.1898T>C	ENSP00000464654.1:p.Ile633Thr
ENST00000579028.1:c.591T>C
NM_032043.2:c.1898T>C , LRG_300t1:c.1898T>C	NP_114432.2:p.Ile633Thr
XM_011525332.1:c.1898T>C	XP_011523634.1:p.Ile633Thr
XM_011525333.1:c.1898T>C	XP_011523635.1:p.Ile633Thr
XM_011525334.1:c.1898T>C	XP_011523636.1:p.Ile633Thr
XM_011525335.1:c.1898T>C	XP_011523637.1:p.Ile633Thr
XM_011525336.1:c.1898T>C	XP_011523638.1:p.Ile633Thr
XM_011525337.1:c.1794+542T>C	XP_011523639.1:n.1794+542T>C
XM_011525338.1:c.1415T>C	XP_011523640.1:p.Ile472Thr
XM_011525339.1:c.1898T>C	XP_011523641.1:p.Ile633Thr
XM_011525340.1:c.1898T>C	XP_011523642.1:p.Ile633Thr
XM_011525341.1:c.1898T>C	XP_011523643.1:p.Ile633Thr
XM_011525332.3:c.1898T>C	XP_011523634.1:p.Ile633Thr
XM_011525333.3:c.1898T>C	XP_011523635.1:p.Ile633Thr
XM_011525334.2:c.1898T>C	XP_011523636.1:p.Ile633Thr
XM_011525335.3:c.1898T>C	XP_011523637.1:p.Ile633Thr
XM_011525336.2:c.1898T>C	XP_011523638.1:p.Ile633Thr
XM_011525337.2:c.1794+542T>C	XP_011523639.1:n.1794+542T>C
XM_011525338.2:c.1415T>C	XP_011523640.1:p.Ile472Thr
XM_011525339.3:c.1898T>C	XP_011523641.1:p.Ile633Thr
XM_011525340.3:c.1898T>C	XP_011523642.1:p.Ile633Thr
XM_011525341.3:c.1898T>C	XP_011523643.1:p.Ile633Thr
XM_017025200.1:c.1415T>C	XP_016880689.1:p.Ile472Thr
XM_017025201.1:c.1355T>C	XP_016880690.1:p.Ile452Thr
XM_017025203.1:c.-63T>C	XP_016880692.1:n.-63T>C
NM_032043.3:c.1898T>C MANE Select	NP_114432.2:p.Ile633Thr