Canonical Allele Identifier: CA400478532

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1024791
• ClinVar RCV Id: RCV001325016
• dbSNP Id: rs2061304526
• MyVariant Identifiers: chr17:g.59760910A>G (hg19) ; chr17:g.61683549A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683549A>G , CM000679.2:g.61683549A>G	GRCh38
NC_000017.10:g.59760910A>G , CM000679.1:g.59760910A>G	GRCh37
NC_000017.9:g.57115692A>G	NCBI36
NG_007409.2:g.185011T>C , LRG_300:g.185011T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2237T>C
ENST00000682453.1:c.3497T>C	ENSP00000506943.1:p.Leu1166Ser
ENST00000682477.1:c.*2923T>C	ENSP00000507075.1:n.*2923T>C
ENST00000682589.1:n.9374T>C
ENST00000682755.1:c.3275T>C	ENSP00000507660.1:p.Leu1092Ser
ENST00000682989.1:c.*588T>C	ENSP00000507786.1:n.*588T>C
ENST00000683039.1:c.3497T>C	ENSP00000508303.1:p.Leu1166Ser
ENST00000683235.1:c.*912T>C	ENSP00000507646.1:n.*912T>C
ENST00000683535.1:n.1627T>C
ENST00000684584.1:c.2660T>C	ENSP00000508044.1:p.Leu887Ser
ENST00000684626.1:n.1743T>C
ENST00000684769.1:c.1687T>C	ENSP00000507691.1:n.1687T>C
ENST00000259008.7:c.3497T>C MANE Select	ENSP00000259008.2:p.Leu1166Ser
ENST00000259008.6:c.3497T>C	ENSP00000259008.2:p.Leu1166Ser
NM_032043.2:c.3497T>C , LRG_300t1:c.3497T>C	NP_114432.2:p.Leu1166Ser
XM_011525332.1:c.3557T>C	XP_011523634.1:p.Leu1186Ser
XM_011525333.1:c.3557T>C	XP_011523635.1:p.Leu1186Ser
XM_011525334.1:c.3557T>C	XP_011523636.1:p.Leu1186Ser
XM_011525335.1:c.3497T>C	XP_011523637.1:p.Leu1166Ser
XM_011525336.1:c.3437T>C	XP_011523638.1:p.Leu1146Ser
XM_011525337.1:c.3356T>C	XP_011523639.1:p.Leu1119Ser
XM_011525338.1:c.3074T>C	XP_011523640.1:p.Leu1025Ser
XM_011525332.3:c.3557T>C	XP_011523634.1:p.Leu1186Ser
XM_011525333.3:c.3557T>C	XP_011523635.1:p.Leu1186Ser
XM_011525334.2:c.3557T>C	XP_011523636.1:p.Leu1186Ser
XM_011525335.3:c.3497T>C	XP_011523637.1:p.Leu1166Ser
XM_011525336.2:c.3437T>C	XP_011523638.1:p.Leu1146Ser
XM_011525337.2:c.3356T>C	XP_011523639.1:p.Leu1119Ser
XM_011525338.2:c.3074T>C	XP_011523640.1:p.Leu1025Ser
XM_017025200.1:c.3014T>C	XP_016880689.1:p.Leu1005Ser
XM_017025201.1:c.3014T>C	XP_016880690.1:p.Leu1005Ser
XM_017025202.1:c.1643T>C	XP_016880691.1:p.Leu548Ser
XM_017025203.1:c.1643T>C	XP_016880692.1:p.Leu548Ser
NM_032043.3:c.3497T>C MANE Select	NP_114432.2:p.Leu1166Ser