Canonical Allele Identifier: CA400478719

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144075911
• MyVariant Identifiers: chr17:g.59760967T>C (hg19) ; chr17:g.61683606T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683606T>C , CM000679.2:g.61683606T>C	GRCh38
NC_000017.10:g.59760967T>C , CM000679.1:g.59760967T>C	GRCh37
NC_000017.9:g.57115749T>C	NCBI36
NG_007409.2:g.184954A>G , LRG_300:g.184954A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2180A>G
ENST00000682453.1:c.3440A>G	ENSP00000506943.1:p.Asn1147Ser
ENST00000682477.1:c.*2866A>G	ENSP00000507075.1:n.*2866A>G
ENST00000682589.1:n.9317A>G
ENST00000682755.1:c.3218A>G	ENSP00000507660.1:p.Asn1073Ser
ENST00000682989.1:c.*531A>G	ENSP00000507786.1:n.*531A>G
ENST00000683039.1:c.3440A>G	ENSP00000508303.1:p.Asn1147Ser
ENST00000683235.1:c.*855A>G	ENSP00000507646.1:n.*855A>G
ENST00000683535.1:n.1570A>G
ENST00000684584.1:c.2603A>G	ENSP00000508044.1:p.Asn868Ser
ENST00000684626.1:n.1686A>G
ENST00000684769.1:c.1630A>G	ENSP00000507691.1:n.1630A>G
ENST00000259008.7:c.3440A>G MANE Select	ENSP00000259008.2:p.Asn1147Ser
ENST00000259008.6:c.3440A>G	ENSP00000259008.2:p.Asn1147Ser
NM_032043.2:c.3440A>G , LRG_300t1:c.3440A>G	NP_114432.2:p.Asn1147Ser
XM_011525332.1:c.3500A>G	XP_011523634.1:p.Asn1167Ser
XM_011525333.1:c.3500A>G	XP_011523635.1:p.Asn1167Ser
XM_011525334.1:c.3500A>G	XP_011523636.1:p.Asn1167Ser
XM_011525335.1:c.3440A>G	XP_011523637.1:p.Asn1147Ser
XM_011525336.1:c.3380A>G	XP_011523638.1:p.Asn1127Ser
XM_011525337.1:c.3299A>G	XP_011523639.1:p.Asn1100Ser
XM_011525338.1:c.3017A>G	XP_011523640.1:p.Asn1006Ser
XM_011525332.3:c.3500A>G	XP_011523634.1:p.Asn1167Ser
XM_011525333.3:c.3500A>G	XP_011523635.1:p.Asn1167Ser
XM_011525334.2:c.3500A>G	XP_011523636.1:p.Asn1167Ser
XM_011525335.3:c.3440A>G	XP_011523637.1:p.Asn1147Ser
XM_011525336.2:c.3380A>G	XP_011523638.1:p.Asn1127Ser
XM_011525337.2:c.3299A>G	XP_011523639.1:p.Asn1100Ser
XM_011525338.2:c.3017A>G	XP_011523640.1:p.Asn1006Ser
XM_017025200.1:c.2957A>G	XP_016880689.1:p.Asn986Ser
XM_017025201.1:c.2957A>G	XP_016880690.1:p.Asn986Ser
XM_017025202.1:c.1586A>G	XP_016880691.1:p.Asn529Ser
XM_017025203.1:c.1586A>G	XP_016880692.1:p.Asn529Ser
NM_032043.3:c.3440A>G MANE Select	NP_114432.2:p.Asn1147Ser