Canonical Allele Identifier: CA501335293

Gene: BRIP1

Linked Data

• dbSNP Id: rs1555572773
• MyVariant Identifiers: chr17:g.59761197T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683836T>C , CM000679.2:g.61683836T>C	GRCh38
NC_000017.10:g.59761197T>C , CM000679.1:g.59761197T>C	GRCh37
NC_000017.9:g.57115979T>C	NCBI36
NG_007409.2:g.184724A>G , LRG_300:g.184724A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1950A>G
ENST00000682453.1:c.3210A>G	ENSP00000506943.1:p.Ser1070=
ENST00000682477.1:c.*2636A>G	ENSP00000507075.1:n.*2636A>G
ENST00000682589.1:n.9087A>G
ENST00000682755.1:c.2988A>G	ENSP00000507660.1:p.Ser996=
ENST00000682989.1:c.*301A>G	ENSP00000507786.1:n.*301A>G
ENST00000683039.1:c.3210A>G	ENSP00000508303.1:p.Ser1070=
ENST00000683235.1:c.*625A>G	ENSP00000507646.1:n.*625A>G
ENST00000683535.1:n.1340A>G
ENST00000684584.1:c.2373A>G	ENSP00000508044.1:p.Ser791=
ENST00000684626.1:n.1456A>G
ENST00000684769.1:c.1400A>G	ENSP00000507691.1:n.1400A>G
ENST00000259008.7:c.3210A>G MANE Select	ENSP00000259008.2:p.Ser1070=
ENST00000259008.6:c.3210A>G	ENSP00000259008.2:p.Ser1070=
NM_032043.2:c.3210A>G , LRG_300t1:c.3210A>G	NP_114432.2:p.Ser1070=
XM_011525332.1:c.3270A>G	XP_011523634.1:p.Ser1090=
XM_011525333.1:c.3270A>G	XP_011523635.1:p.Ser1090=
XM_011525334.1:c.3270A>G	XP_011523636.1:p.Ser1090=
XM_011525335.1:c.3210A>G	XP_011523637.1:p.Ser1070=
XM_011525336.1:c.3150A>G	XP_011523638.1:p.Ser1050=
XM_011525337.1:c.3069A>G	XP_011523639.1:p.Ser1023=
XM_011525338.1:c.2787A>G	XP_011523640.1:p.Ser929=
XM_011525332.3:c.3270A>G	XP_011523634.1:p.Ser1090=
XM_011525333.3:c.3270A>G	XP_011523635.1:p.Ser1090=
XM_011525334.2:c.3270A>G	XP_011523636.1:p.Ser1090=
XM_011525335.3:c.3210A>G	XP_011523637.1:p.Ser1070=
XM_011525336.2:c.3150A>G	XP_011523638.1:p.Ser1050=
XM_011525337.2:c.3069A>G	XP_011523639.1:p.Ser1023=
XM_011525338.2:c.2787A>G	XP_011523640.1:p.Ser929=
XM_017025200.1:c.2727A>G	XP_016880689.1:p.Ser909=
XM_017025201.1:c.2727A>G	XP_016880690.1:p.Ser909=
XM_017025202.1:c.1356A>G	XP_016880691.1:p.Ser452=
XM_017025203.1:c.1356A>G	XP_016880692.1:p.Ser452=
NM_032043.3:c.3210A>G MANE Select	NP_114432.2:p.Ser1070=