Canonical Allele Identifier: CA10580772

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 232260
• ClinVar RCV Id: RCV000214687 ; RCV001370279
• dbSNP Id: rs876659655
• gnomAD v4: 17-61683573-A-C
• MyVariant Identifiers: chr17:g.59760934A>C (hg19) ; chr17:g.61683573A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683573A>C , CM000679.2:g.61683573A>C	GRCh38
NC_000017.10:g.59760934A>C , CM000679.1:g.59760934A>C	GRCh37
NC_000017.9:g.57115716A>C	NCBI36
NG_007409.2:g.184987T>G , LRG_300:g.184987T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2213T>G
ENST00000682453.1:c.3473T>G	ENSP00000506943.1:p.Leu1158Trp
ENST00000682477.1:c.*2899T>G	ENSP00000507075.1:n.*2899T>G
ENST00000682589.1:n.9350T>G
ENST00000682755.1:c.3251T>G	ENSP00000507660.1:p.Leu1084Trp
ENST00000682989.1:c.*564T>G	ENSP00000507786.1:n.*564T>G
ENST00000683039.1:c.3473T>G	ENSP00000508303.1:p.Leu1158Trp
ENST00000683235.1:c.*888T>G	ENSP00000507646.1:n.*888T>G
ENST00000683535.1:n.1603T>G
ENST00000684584.1:c.2636T>G	ENSP00000508044.1:p.Leu879Trp
ENST00000684626.1:n.1719T>G
ENST00000684769.1:c.1663T>G	ENSP00000507691.1:n.1663T>G
ENST00000259008.7:c.3473T>G MANE Select	ENSP00000259008.2:p.Leu1158Trp
ENST00000259008.6:c.3473T>G	ENSP00000259008.2:p.Leu1158Trp
NM_032043.2:c.3473T>G , LRG_300t1:c.3473T>G	NP_114432.2:p.Leu1158Trp
XM_011525332.1:c.3533T>G	XP_011523634.1:p.Leu1178Trp
XM_011525333.1:c.3533T>G	XP_011523635.1:p.Leu1178Trp
XM_011525334.1:c.3533T>G	XP_011523636.1:p.Leu1178Trp
XM_011525335.1:c.3473T>G	XP_011523637.1:p.Leu1158Trp
XM_011525336.1:c.3413T>G	XP_011523638.1:p.Leu1138Trp
XM_011525337.1:c.3332T>G	XP_011523639.1:p.Leu1111Trp
XM_011525338.1:c.3050T>G	XP_011523640.1:p.Leu1017Trp
XM_011525332.3:c.3533T>G	XP_011523634.1:p.Leu1178Trp
XM_011525333.3:c.3533T>G	XP_011523635.1:p.Leu1178Trp
XM_011525334.2:c.3533T>G	XP_011523636.1:p.Leu1178Trp
XM_011525335.3:c.3473T>G	XP_011523637.1:p.Leu1158Trp
XM_011525336.2:c.3413T>G	XP_011523638.1:p.Leu1138Trp
XM_011525337.2:c.3332T>G	XP_011523639.1:p.Leu1111Trp
XM_011525338.2:c.3050T>G	XP_011523640.1:p.Leu1017Trp
XM_017025200.1:c.2990T>G	XP_016880689.1:p.Leu997Trp
XM_017025201.1:c.2990T>G	XP_016880690.1:p.Leu997Trp
XM_017025202.1:c.1619T>G	XP_016880691.1:p.Leu540Trp
XM_017025203.1:c.1619T>G	XP_016880692.1:p.Leu540Trp
NM_032043.3:c.3473T>G MANE Select	NP_114432.2:p.Leu1158Trp