Canonical Allele Identifier: CA400478947

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144079597
• MyVariant Identifiers: chr17:g.59761068T>G (hg19) ; chr17:g.61683707T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683707T>G , CM000679.2:g.61683707T>G	GRCh38
NC_000017.10:g.59761068T>G , CM000679.1:g.59761068T>G	GRCh37
NC_000017.9:g.57115850T>G	NCBI36
NG_007409.2:g.184853A>C , LRG_300:g.184853A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2079A>C
ENST00000682453.1:c.3339A>C	ENSP00000506943.1:p.Lys1113Asn
ENST00000682477.1:c.*2765A>C	ENSP00000507075.1:n.*2765A>C
ENST00000682589.1:n.9216A>C
ENST00000682755.1:c.3117A>C	ENSP00000507660.1:p.Lys1039Asn
ENST00000682989.1:c.*430A>C	ENSP00000507786.1:n.*430A>C
ENST00000683039.1:c.3339A>C	ENSP00000508303.1:p.Lys1113Asn
ENST00000683235.1:c.*754A>C	ENSP00000507646.1:n.*754A>C
ENST00000683535.1:n.1469A>C
ENST00000684584.1:c.2502A>C	ENSP00000508044.1:p.Lys834Asn
ENST00000684626.1:n.1585A>C
ENST00000684769.1:c.1529A>C	ENSP00000507691.1:n.1529A>C
ENST00000259008.7:c.3339A>C MANE Select	ENSP00000259008.2:p.Lys1113Asn
ENST00000259008.6:c.3339A>C	ENSP00000259008.2:p.Lys1113Asn
NM_032043.2:c.3339A>C , LRG_300t1:c.3339A>C	NP_114432.2:p.Lys1113Asn
XM_011525332.1:c.3399A>C	XP_011523634.1:p.Lys1133Asn
XM_011525333.1:c.3399A>C	XP_011523635.1:p.Lys1133Asn
XM_011525334.1:c.3399A>C	XP_011523636.1:p.Lys1133Asn
XM_011525335.1:c.3339A>C	XP_011523637.1:p.Lys1113Asn
XM_011525336.1:c.3279A>C	XP_011523638.1:p.Lys1093Asn
XM_011525337.1:c.3198A>C	XP_011523639.1:p.Lys1066Asn
XM_011525338.1:c.2916A>C	XP_011523640.1:p.Lys972Asn
XM_011525332.3:c.3399A>C	XP_011523634.1:p.Lys1133Asn
XM_011525333.3:c.3399A>C	XP_011523635.1:p.Lys1133Asn
XM_011525334.2:c.3399A>C	XP_011523636.1:p.Lys1133Asn
XM_011525335.3:c.3339A>C	XP_011523637.1:p.Lys1113Asn
XM_011525336.2:c.3279A>C	XP_011523638.1:p.Lys1093Asn
XM_011525337.2:c.3198A>C	XP_011523639.1:p.Lys1066Asn
XM_011525338.2:c.2916A>C	XP_011523640.1:p.Lys972Asn
XM_017025200.1:c.2856A>C	XP_016880689.1:p.Lys952Asn
XM_017025201.1:c.2856A>C	XP_016880690.1:p.Lys952Asn
XM_017025202.1:c.1485A>C	XP_016880691.1:p.Lys495Asn
XM_017025203.1:c.1485A>C	XP_016880692.1:p.Lys495Asn
NM_032043.3:c.3339A>C MANE Select	NP_114432.2:p.Lys1113Asn