Canonical Allele Identifier: CA501335312

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 461141
• ClinVar RCV Id: RCV000551675 ; RCV001019043
• dbSNP Id: rs1555572792
• MyVariant Identifiers: chr17:g.59761224G>A (hg19) ; chr17:g.61683863G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683863G>A , CM000679.2:g.61683863G>A	GRCh38
NC_000017.10:g.59761224G>A , CM000679.1:g.59761224G>A	GRCh37
NC_000017.9:g.57116006G>A	NCBI36
NG_007409.2:g.184697C>T , LRG_300:g.184697C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1923C>T
ENST00000682453.1:c.3183C>T	ENSP00000506943.1:p.Asn1061=
ENST00000682477.1:c.*2609C>T	ENSP00000507075.1:n.*2609C>T
ENST00000682589.1:n.9060C>T
ENST00000682755.1:c.2961C>T	ENSP00000507660.1:p.Asn987=
ENST00000682989.1:c.*274C>T	ENSP00000507786.1:n.*274C>T
ENST00000683039.1:c.3183C>T	ENSP00000508303.1:p.Asn1061=
ENST00000683235.1:c.*598C>T	ENSP00000507646.1:n.*598C>T
ENST00000683535.1:n.1313C>T
ENST00000684584.1:c.2346C>T	ENSP00000508044.1:p.Asn782=
ENST00000684626.1:n.1429C>T
ENST00000684769.1:c.1373C>T	ENSP00000507691.1:n.1373C>T
ENST00000259008.7:c.3183C>T MANE Select	ENSP00000259008.2:p.Asn1061=
ENST00000259008.6:c.3183C>T	ENSP00000259008.2:p.Asn1061=
NM_032043.2:c.3183C>T , LRG_300t1:c.3183C>T	NP_114432.2:p.Asn1061=
XM_011525332.1:c.3243C>T	XP_011523634.1:p.Asn1081=
XM_011525333.1:c.3243C>T	XP_011523635.1:p.Asn1081=
XM_011525334.1:c.3243C>T	XP_011523636.1:p.Asn1081=
XM_011525335.1:c.3183C>T	XP_011523637.1:p.Asn1061=
XM_011525336.1:c.3123C>T	XP_011523638.1:p.Asn1041=
XM_011525337.1:c.3042C>T	XP_011523639.1:p.Asn1014=
XM_011525338.1:c.2760C>T	XP_011523640.1:p.Asn920=
XM_011525332.3:c.3243C>T	XP_011523634.1:p.Asn1081=
XM_011525333.3:c.3243C>T	XP_011523635.1:p.Asn1081=
XM_011525334.2:c.3243C>T	XP_011523636.1:p.Asn1081=
XM_011525335.3:c.3183C>T	XP_011523637.1:p.Asn1061=
XM_011525336.2:c.3123C>T	XP_011523638.1:p.Asn1041=
XM_011525337.2:c.3042C>T	XP_011523639.1:p.Asn1014=
XM_011525338.2:c.2760C>T	XP_011523640.1:p.Asn920=
XM_017025200.1:c.2700C>T	XP_016880689.1:p.Asn900=
XM_017025201.1:c.2700C>T	XP_016880690.1:p.Asn900=
XM_017025202.1:c.1329C>T	XP_016880691.1:p.Asn443=
XM_017025203.1:c.1329C>T	XP_016880692.1:p.Asn443=
NM_032043.3:c.3183C>T MANE Select	NP_114432.2:p.Asn1061=