Canonical Allele Identifier: CA501335255
Gene: BRIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.59760879T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683518T>A , CM000679.2:g.61683518T>A GRCh38
NC_000017.10:g.59760879T>A , CM000679.1:g.59760879T>A GRCh37
NC_000017.9:g.57115661T>A NCBI36
NG_007409.2:g.185042A>T , LRG_300:g.185042A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2268A>T
ENST00000682453.1:c.3528A>T ENSP00000506943.1:p.Ile1176=
ENST00000682477.1:c.*2954A>T ENSP00000507075.1:n.*2954A>T
ENST00000682589.1:n.9405A>T
ENST00000682755.1:c.3306A>T ENSP00000507660.1:p.Ile1102=
ENST00000682989.1:c.*619A>T ENSP00000507786.1:n.*619A>T
ENST00000683039.1:c.3528A>T ENSP00000508303.1:p.Ile1176=
ENST00000683235.1:c.*943A>T ENSP00000507646.1:n.*943A>T
ENST00000683535.1:n.1658A>T
ENST00000684584.1:c.2691A>T ENSP00000508044.1:p.Ile897=
ENST00000684626.1:n.1774A>T
ENST00000684769.1:c.1718A>T ENSP00000507691.1:n.1718A>T
ENST00000259008.7:c.3528A>T MANE Select ENSP00000259008.2:p.Ile1176=
ENST00000259008.6:c.3528A>T ENSP00000259008.2:p.Ile1176=
NM_032043.2:c.3528A>T , LRG_300t1:c.3528A>T NP_114432.2:p.Ile1176=
XM_011525332.1:c.3588A>T XP_011523634.1:p.Ile1196=
XM_011525333.1:c.3588A>T XP_011523635.1:p.Ile1196=
XM_011525334.1:c.3588A>T XP_011523636.1:p.Ile1196=
XM_011525335.1:c.3528A>T XP_011523637.1:p.Ile1176=
XM_011525336.1:c.3468A>T XP_011523638.1:p.Ile1156=
XM_011525337.1:c.3387A>T XP_011523639.1:p.Ile1129=
XM_011525338.1:c.3105A>T XP_011523640.1:p.Ile1035=
XM_011525332.3:c.3588A>T XP_011523634.1:p.Ile1196=
XM_011525333.3:c.3588A>T XP_011523635.1:p.Ile1196=
XM_011525334.2:c.3588A>T XP_011523636.1:p.Ile1196=
XM_011525335.3:c.3528A>T XP_011523637.1:p.Ile1176=
XM_011525336.2:c.3468A>T XP_011523638.1:p.Ile1156=
XM_011525337.2:c.3387A>T XP_011523639.1:p.Ile1129=
XM_011525338.2:c.3105A>T XP_011523640.1:p.Ile1035=
XM_017025200.1:c.3045A>T XP_016880689.1:p.Ile1015=
XM_017025201.1:c.3045A>T XP_016880690.1:p.Ile1015=
XM_017025202.1:c.1674A>T XP_016880691.1:p.Ile558=
XM_017025203.1:c.1674A>T XP_016880692.1:p.Ile558=
NM_032043.3:c.3528A>T MANE Select NP_114432.2:p.Ile1176=