Canonical Allele Identifier: CA194731

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 186406
• ClinVar RCV Id: RCV000165998 ; RCV001850330
• dbSNP Id: rs786202927
• MyVariant Identifiers: chr17:g.59761175T>A (hg19) ; chr17:g.61683814T>A (hg38)
• PubMed: PMID:20159562 ; PMID:20616022 ; PMID:21127055 ; PMID:22792074

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683814T>A , CM000679.2:g.61683814T>A	GRCh38
NC_000017.10:g.59761175T>A , CM000679.1:g.59761175T>A	GRCh37
NC_000017.9:g.57115957T>A	NCBI36
NG_007409.2:g.184746A>T , LRG_300:g.184746A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1972A>T
ENST00000682453.1:c.3232A>T	ENSP00000506943.1:p.Lys1078Ter
ENST00000682477.1:c.*2658A>T	ENSP00000507075.1:n.*2658A>T
ENST00000682589.1:n.9109A>T
ENST00000682755.1:c.3010A>T	ENSP00000507660.1:p.Lys1004Ter
ENST00000682989.1:c.*323A>T	ENSP00000507786.1:n.*323A>T
ENST00000683039.1:c.3232A>T	ENSP00000508303.1:p.Lys1078Ter
ENST00000683235.1:c.*647A>T	ENSP00000507646.1:n.*647A>T
ENST00000683535.1:n.1362A>T
ENST00000684584.1:c.2395A>T	ENSP00000508044.1:p.Lys799Ter
ENST00000684626.1:n.1478A>T
ENST00000684769.1:c.1422A>T	ENSP00000507691.1:n.1422A>T
ENST00000259008.7:c.3232A>T MANE Select	ENSP00000259008.2:p.Lys1078Ter
ENST00000259008.6:c.3232A>T	ENSP00000259008.2:p.Lys1078Ter
NM_032043.2:c.3232A>T , LRG_300t1:c.3232A>T	NP_114432.2:p.Lys1078Ter
XM_011525332.1:c.3292A>T	XP_011523634.1:p.Lys1098Ter
XM_011525333.1:c.3292A>T	XP_011523635.1:p.Lys1098Ter
XM_011525334.1:c.3292A>T	XP_011523636.1:p.Lys1098Ter
XM_011525335.1:c.3232A>T	XP_011523637.1:p.Lys1078Ter
XM_011525336.1:c.3172A>T	XP_011523638.1:p.Lys1058Ter
XM_011525337.1:c.3091A>T	XP_011523639.1:p.Lys1031Ter
XM_011525338.1:c.2809A>T	XP_011523640.1:p.Lys937Ter
XM_011525332.3:c.3292A>T	XP_011523634.1:p.Lys1098Ter
XM_011525333.3:c.3292A>T	XP_011523635.1:p.Lys1098Ter
XM_011525334.2:c.3292A>T	XP_011523636.1:p.Lys1098Ter
XM_011525335.3:c.3232A>T	XP_011523637.1:p.Lys1078Ter
XM_011525336.2:c.3172A>T	XP_011523638.1:p.Lys1058Ter
XM_011525337.2:c.3091A>T	XP_011523639.1:p.Lys1031Ter
XM_011525338.2:c.2809A>T	XP_011523640.1:p.Lys937Ter
XM_017025200.1:c.2749A>T	XP_016880689.1:p.Lys917Ter
XM_017025201.1:c.2749A>T	XP_016880690.1:p.Lys917Ter
XM_017025202.1:c.1378A>T	XP_016880691.1:p.Lys460Ter
XM_017025203.1:c.1378A>T	XP_016880692.1:p.Lys460Ter
NM_032043.3:c.3232A>T MANE Select	NP_114432.2:p.Lys1078Ter