Canonical Allele Identifier: CA8690394

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 241650
• ClinVar RCV Id: RCV000233906 ; RCV000989983 ; RCV001175823
• dbSNP Id: rs761225576
• ExAC: 17:59761285 A / G
• gnomAD v2: 17-59761285-A-G
• gnomAD v4: 17-61683924-A-G
• MyVariant Identifiers: chr17:g.59761285A>G (hg19) ; chr17:g.61683924A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683924A>G , CM000679.2:g.61683924A>G	GRCh38
NC_000017.10:g.59761285A>G , CM000679.1:g.59761285A>G	GRCh37
NC_000017.9:g.57116067A>G	NCBI36
NG_007409.2:g.184636T>C , LRG_300:g.184636T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1862T>C
ENST00000682453.1:c.3122T>C	ENSP00000506943.1:p.Met1041Thr
ENST00000682477.1:c.*2548T>C	ENSP00000507075.1:n.*2548T>C
ENST00000682589.1:n.8999T>C
ENST00000682755.1:c.2900T>C	ENSP00000507660.1:p.Met967Thr
ENST00000682989.1:c.*213T>C	ENSP00000507786.1:n.*213T>C
ENST00000683039.1:c.3122T>C	ENSP00000508303.1:p.Met1041Thr
ENST00000683235.1:c.*537T>C	ENSP00000507646.1:n.*537T>C
ENST00000683535.1:n.1252T>C
ENST00000684584.1:c.2285T>C	ENSP00000508044.1:p.Met762Thr
ENST00000684626.1:n.1368T>C
ENST00000684769.1:c.1312T>C	ENSP00000507691.1:n.1312T>C
ENST00000259008.7:c.3122T>C MANE Select	ENSP00000259008.2:p.Met1041Thr
ENST00000259008.6:c.3122T>C	ENSP00000259008.2:p.Met1041Thr
NM_032043.2:c.3122T>C , LRG_300t1:c.3122T>C	NP_114432.2:p.Met1041Thr
XM_011525332.1:c.3182T>C	XP_011523634.1:p.Met1061Thr
XM_011525333.1:c.3182T>C	XP_011523635.1:p.Met1061Thr
XM_011525334.1:c.3182T>C	XP_011523636.1:p.Met1061Thr
XM_011525335.1:c.3122T>C	XP_011523637.1:p.Met1041Thr
XM_011525336.1:c.3062T>C	XP_011523638.1:p.Met1021Thr
XM_011525337.1:c.2981T>C	XP_011523639.1:p.Met994Thr
XM_011525338.1:c.2699T>C	XP_011523640.1:p.Met900Thr
XM_011525332.3:c.3182T>C	XP_011523634.1:p.Met1061Thr
XM_011525333.3:c.3182T>C	XP_011523635.1:p.Met1061Thr
XM_011525334.2:c.3182T>C	XP_011523636.1:p.Met1061Thr
XM_011525335.3:c.3122T>C	XP_011523637.1:p.Met1041Thr
XM_011525336.2:c.3062T>C	XP_011523638.1:p.Met1021Thr
XM_011525337.2:c.2981T>C	XP_011523639.1:p.Met994Thr
XM_011525338.2:c.2699T>C	XP_011523640.1:p.Met900Thr
XM_017025200.1:c.2639T>C	XP_016880689.1:p.Met880Thr
XM_017025201.1:c.2639T>C	XP_016880690.1:p.Met880Thr
XM_017025202.1:c.1268T>C	XP_016880691.1:p.Met423Thr
XM_017025203.1:c.1268T>C	XP_016880692.1:p.Met423Thr
NM_032043.3:c.3122T>C MANE Select	NP_114432.2:p.Met1041Thr