Canonical Allele Identifier: CA400478142

Gene: BRIP1

Linked Data

• dbSNP Id: rs1603274852
• MyVariant Identifiers: chr17:g.59760820T>C (hg19) ; chr17:g.61683459T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683459T>C , CM000679.2:g.61683459T>C	GRCh38
NC_000017.10:g.59760820T>C , CM000679.1:g.59760820T>C	GRCh37
NC_000017.9:g.57115602T>C	NCBI36
NG_007409.2:g.185101A>G , LRG_300:g.185101A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2327A>G
ENST00000682453.1:c.3587A>G	ENSP00000506943.1:p.Asn1196Ser
ENST00000682477.1:c.*3013A>G	ENSP00000507075.1:n.*3013A>G
ENST00000682589.1:n.9464A>G
ENST00000682755.1:c.3365A>G	ENSP00000507660.1:p.Asn1122Ser
ENST00000682989.1:c.*678A>G	ENSP00000507786.1:n.*678A>G
ENST00000683039.1:c.3587A>G	ENSP00000508303.1:p.Asn1196Ser
ENST00000683235.1:c.*1002A>G	ENSP00000507646.1:n.*1002A>G
ENST00000683535.1:n.1717A>G
ENST00000684584.1:c.2750A>G	ENSP00000508044.1:p.Asn917Ser
ENST00000684626.1:n.1833A>G
ENST00000684769.1:c.1777A>G	ENSP00000507691.1:n.1777A>G
ENST00000259008.7:c.3587A>G MANE Select	ENSP00000259008.2:p.Asn1196Ser
ENST00000259008.6:c.3587A>G	ENSP00000259008.2:p.Asn1196Ser
NM_032043.2:c.3587A>G , LRG_300t1:c.3587A>G	NP_114432.2:p.Asn1196Ser
XM_011525332.1:c.3647A>G	XP_011523634.1:p.Asn1216Ser
XM_011525333.1:c.3647A>G	XP_011523635.1:p.Asn1216Ser
XM_011525334.1:c.3647A>G	XP_011523636.1:p.Asn1216Ser
XM_011525335.1:c.3587A>G	XP_011523637.1:p.Asn1196Ser
XM_011525336.1:c.3527A>G	XP_011523638.1:p.Asn1176Ser
XM_011525337.1:c.3446A>G	XP_011523639.1:p.Asn1149Ser
XM_011525338.1:c.3164A>G	XP_011523640.1:p.Asn1055Ser
XM_011525332.3:c.3647A>G	XP_011523634.1:p.Asn1216Ser
XM_011525333.3:c.3647A>G	XP_011523635.1:p.Asn1216Ser
XM_011525334.2:c.3647A>G	XP_011523636.1:p.Asn1216Ser
XM_011525335.3:c.3587A>G	XP_011523637.1:p.Asn1196Ser
XM_011525336.2:c.3527A>G	XP_011523638.1:p.Asn1176Ser
XM_011525337.2:c.3446A>G	XP_011523639.1:p.Asn1149Ser
XM_011525338.2:c.3164A>G	XP_011523640.1:p.Asn1055Ser
XM_017025200.1:c.3104A>G	XP_016880689.1:p.Asn1035Ser
XM_017025201.1:c.3104A>G	XP_016880690.1:p.Asn1035Ser
XM_017025202.1:c.1733A>G	XP_016880691.1:p.Asn578Ser
XM_017025203.1:c.1733A>G	XP_016880692.1:p.Asn578Ser
NM_032043.3:c.3587A>G MANE Select	NP_114432.2:p.Asn1196Ser