Canonical Allele Identifier: CA16042174

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 372090
• ClinVar RCV Id: RCV000409317 ; RCV000411722 ; RCV000636132 ; RCV001267955 ; RCV002418233 ; RCV003316518
• dbSNP Id: rs1057517643
• MyVariant Identifiers: chr17:g.59821939A>T (hg19) ; chr17:g.61744578A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61744578A>T , CM000679.2:g.61744578A>T	GRCh38
NC_000017.10:g.59821939A>T , CM000679.1:g.59821939A>T	GRCh37
NC_000017.9:g.57176721A>T	NCBI36
NG_007409.2:g.123982T>A , LRG_300:g.123982T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.1693T>A	ENSP00000463827.2:n.1693T>A
ENST00000584322.2:c.2111T>A	ENSP00000463272.2:p.Leu704Ter
ENST00000682066.1:c.2241T>A	ENSP00000507191.1:n.2241T>A
ENST00000682073.1:n.851T>A
ENST00000682433.1:n.1190T>A
ENST00000682453.1:c.2111T>A	ENSP00000506943.1:p.Leu704Ter
ENST00000682477.1:c.*1537T>A	ENSP00000507075.1:n.*1537T>A
ENST00000682589.1:n.7988T>A
ENST00000682755.1:c.1889T>A	ENSP00000507660.1:p.Leu630Ter
ENST00000682989.1:c.2111T>A	ENSP00000507786.1:p.Leu704Ter
ENST00000683039.1:c.2111T>A	ENSP00000508303.1:p.Leu704Ter
ENST00000683235.1:c.2111T>A	ENSP00000507646.1:p.Leu704Ter
ENST00000683381.1:c.2171T>A	ENSP00000508184.1:p.Leu724Ter
ENST00000683535.1:n.241T>A
ENST00000684471.1:n.524T>A
ENST00000684584.1:c.1604T>A	ENSP00000508044.1:p.Leu535Ter
ENST00000684769.1:c.176T>A	ENSP00000507691.1:p.Leu59Ter
ENST00000259008.7:c.2111T>A MANE Select	ENSP00000259008.2:p.Leu704Ter
ENST00000259008.6:c.2111T>A	ENSP00000259008.2:p.Leu704Ter
ENST00000577598.5:c.2111T>A	ENSP00000464654.1:p.Leu704Ter
ENST00000584322.1:c.94T>A
NM_032043.2:c.2111T>A , LRG_300t1:c.2111T>A	NP_114432.2:p.Leu704Ter
XM_011525332.1:c.2171T>A	XP_011523634.1:p.Leu724Ter
XM_011525333.1:c.2171T>A	XP_011523635.1:p.Leu724Ter
XM_011525334.1:c.2171T>A	XP_011523636.1:p.Leu724Ter
XM_011525335.1:c.2111T>A	XP_011523637.1:p.Leu704Ter
XM_011525336.1:c.2051T>A	XP_011523638.1:p.Leu684Ter
XM_011525337.1:c.1970T>A	XP_011523639.1:p.Leu657Ter
XM_011525338.1:c.1688T>A	XP_011523640.1:p.Leu563Ter
XM_011525339.1:c.2171T>A	XP_011523641.1:p.Leu724Ter
XM_011525340.1:c.2171T>A	XP_011523642.1:p.Leu724Ter
XM_011525332.3:c.2171T>A	XP_011523634.1:p.Leu724Ter
XM_011525333.3:c.2171T>A	XP_011523635.1:p.Leu724Ter
XM_011525334.2:c.2171T>A	XP_011523636.1:p.Leu724Ter
XM_011525335.3:c.2111T>A	XP_011523637.1:p.Leu704Ter
XM_011525336.2:c.2051T>A	XP_011523638.1:p.Leu684Ter
XM_011525337.2:c.1970T>A	XP_011523639.1:p.Leu657Ter
XM_011525338.2:c.1688T>A	XP_011523640.1:p.Leu563Ter
XM_011525339.3:c.2171T>A	XP_011523641.1:p.Leu724Ter
XM_011525340.3:c.2171T>A	XP_011523642.1:p.Leu724Ter
XM_017025200.1:c.1628T>A	XP_016880689.1:p.Leu543Ter
XM_017025201.1:c.1628T>A	XP_016880690.1:p.Leu543Ter
XM_017025202.1:c.257T>A	XP_016880691.1:p.Leu86Ter
XM_017025203.1:c.257T>A	XP_016880692.1:p.Leu86Ter
NM_032043.3:c.2111T>A MANE Select	NP_114432.2:p.Leu704Ter