Canonical Allele Identifier: CA343163182

Gene: GORAB

Linked Data

• MyVariant Identifiers: chr1:g.170508705A>T (hg19) ; chr1:g.170539564A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170539564A>T , CM000663.2:g.170539564A>T	GRCh38
NC_000001.10:g.170508705A>T , CM000663.1:g.170508705A>T	GRCh37
NC_000001.9:g.168775329A>T	NCBI36
NG_012237.1:g.12443A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684929.1:n.385A>T
ENST00000685515.1:c.*280A>T	ENSP00000509073.1:n.*280A>T
ENST00000685976.1:n.521A>T
ENST00000686135.1:n.1876A>T
ENST00000686870.1:c.416A>T	ENSP00000510121.1:p.Glu139Val
ENST00000687370.1:n.3432A>T
ENST00000687880.1:c.*410A>T	ENSP00000508486.1:n.*410A>T
ENST00000688499.1:c.*280A>T	ENSP00000509581.1:n.*280A>T
ENST00000688688.1:c.365A>T	ENSP00000510426.1:p.Glu122Val
ENST00000689173.1:c.*410A>T	ENSP00000509341.1:n.*410A>T
ENST00000690124.1:n.580A>T
ENST00000690898.1:n.605A>T
ENST00000691199.1:n.191-2927A>T
ENST00000691235.1:n.139-2927A>T
ENST00000691574.1:n.450A>T
ENST00000692234.1:c.*280A>T	ENSP00000508508.1:n.*280A>T
ENST00000692855.1:n.567A>T
ENST00000692875.1:c.365A>T	ENSP00000508785.1:p.Glu122Val
ENST00000693173.1:c.*410A>T	ENSP00000510143.1:n.*410A>T
ENST00000693373.1:n.404A>T
ENST00000367762.2:c.416A>T	ENSP00000356736.2:p.Glu139Val
ENST00000367763.8:c.416A>T MANE Select	ENSP00000356737.4:p.Glu139Val
ENST00000498166.6:c.*410A>T	ENSP00000473336.2:n.*410A>T
ENST00000367762.1:c.491A>T	ENSP00000356736.1:p.Glu164Val
ENST00000367763.7:c.491A>T	ENSP00000356737.3:p.Glu164Val
ENST00000465717.1:n.502A>T
ENST00000498166.5:c.789A>T
ENST00000498600.2:n.503A>T
NM_001146039.1:c.491A>T	NP_001139511.1:p.Glu164Val
NM_152281.2:c.491A>T	NP_689494.2:p.Glu164Val
NR_027397.1:n.518A>T
XM_006711628.2:c.-54A>T	XP_006711691.1:n.-54A>T
XM_006711629.2:c.-50A>T	XP_006711692.1:n.-50A>T
XM_011510149.1:c.440A>T	XP_011508451.1:p.Glu147Val
XM_011510150.1:c.-54A>T	XP_011508452.1:n.-54A>T
XM_011510151.1:c.-54A>T	XP_011508453.1:n.-54A>T
NM_001320252.1:c.-50A>T	NP_001307181.1:n.-50A>T
XM_006711628.4:c.-54A>T	XP_006711691.1:n.-54A>T
XM_011510149.2:c.440A>T	XP_011508451.1:p.Glu147Val
XM_011510150.3:c.-54A>T	XP_011508452.1:n.-54A>T
XM_017002807.1:c.-54A>T	XP_016858296.1:n.-54A>T
XM_024450864.1:c.-50A>T	XP_024306632.1:n.-50A>T
NM_001146039.2:c.416A>T	NP_001139511.2:p.Glu139Val
NM_001320252.2:c.-50A>T	NP_001307181.1:n.-50A>T
NM_152281.3:c.416A>T MANE Select	NP_689494.3:p.Glu139Val
NR_027397.2:n.474A>T