Canonical Allele Identifier: CA501334995
Gene: BRIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.59760921T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683560T>A , CM000679.2:g.61683560T>A GRCh38
NC_000017.10:g.59760921T>A , CM000679.1:g.59760921T>A GRCh37
NC_000017.9:g.57115703T>A NCBI36
NG_007409.2:g.185000A>T , LRG_300:g.185000A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2226A>T
ENST00000682453.1:c.3486A>T ENSP00000506943.1:p.Ser1162=
ENST00000682477.1:c.*2912A>T ENSP00000507075.1:n.*2912A>T
ENST00000682589.1:n.9363A>T
ENST00000682755.1:c.3264A>T ENSP00000507660.1:p.Ser1088=
ENST00000682989.1:c.*577A>T ENSP00000507786.1:n.*577A>T
ENST00000683039.1:c.3486A>T ENSP00000508303.1:p.Ser1162=
ENST00000683235.1:c.*901A>T ENSP00000507646.1:n.*901A>T
ENST00000683535.1:n.1616A>T
ENST00000684584.1:c.2649A>T ENSP00000508044.1:p.Ser883=
ENST00000684626.1:n.1732A>T
ENST00000684769.1:c.1676A>T ENSP00000507691.1:n.1676A>T
ENST00000259008.7:c.3486A>T MANE Select ENSP00000259008.2:p.Ser1162=
ENST00000259008.6:c.3486A>T ENSP00000259008.2:p.Ser1162=
NM_032043.2:c.3486A>T , LRG_300t1:c.3486A>T NP_114432.2:p.Ser1162=
XM_011525332.1:c.3546A>T XP_011523634.1:p.Ser1182=
XM_011525333.1:c.3546A>T XP_011523635.1:p.Ser1182=
XM_011525334.1:c.3546A>T XP_011523636.1:p.Ser1182=
XM_011525335.1:c.3486A>T XP_011523637.1:p.Ser1162=
XM_011525336.1:c.3426A>T XP_011523638.1:p.Ser1142=
XM_011525337.1:c.3345A>T XP_011523639.1:p.Ser1115=
XM_011525338.1:c.3063A>T XP_011523640.1:p.Ser1021=
XM_011525332.3:c.3546A>T XP_011523634.1:p.Ser1182=
XM_011525333.3:c.3546A>T XP_011523635.1:p.Ser1182=
XM_011525334.2:c.3546A>T XP_011523636.1:p.Ser1182=
XM_011525335.3:c.3486A>T XP_011523637.1:p.Ser1162=
XM_011525336.2:c.3426A>T XP_011523638.1:p.Ser1142=
XM_011525337.2:c.3345A>T XP_011523639.1:p.Ser1115=
XM_011525338.2:c.3063A>T XP_011523640.1:p.Ser1021=
XM_017025200.1:c.3003A>T XP_016880689.1:p.Ser1001=
XM_017025201.1:c.3003A>T XP_016880690.1:p.Ser1001=
XM_017025202.1:c.1632A>T XP_016880691.1:p.Ser544=
XM_017025203.1:c.1632A>T XP_016880692.1:p.Ser544=
NM_032043.3:c.3486A>T MANE Select NP_114432.2:p.Ser1162=