Canonical Allele Identifier: CA343163165

Gene: GORAB

Linked Data

• MyVariant Identifiers: chr1:g.170508701G>T (hg19) ; chr1:g.170539560G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170539560G>T , CM000663.2:g.170539560G>T	GRCh38
NC_000001.10:g.170508701G>T , CM000663.1:g.170508701G>T	GRCh37
NC_000001.9:g.168775325G>T	NCBI36
NG_012237.1:g.12439G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684929.1:n.381G>T
ENST00000685515.1:c.*276G>T	ENSP00000509073.1:n.*276G>T
ENST00000685976.1:n.517G>T
ENST00000686135.1:n.1872G>T
ENST00000686870.1:c.412G>T	ENSP00000510121.1:p.Val138Leu
ENST00000687370.1:n.3428G>T
ENST00000687880.1:c.*406G>T	ENSP00000508486.1:n.*406G>T
ENST00000688499.1:c.*276G>T	ENSP00000509581.1:n.*276G>T
ENST00000688688.1:c.361G>T	ENSP00000510426.1:p.Val121Leu
ENST00000689173.1:c.*406G>T	ENSP00000509341.1:n.*406G>T
ENST00000690124.1:n.576G>T
ENST00000690898.1:n.601G>T
ENST00000691199.1:n.191-2931G>T
ENST00000691235.1:n.139-2931G>T
ENST00000691574.1:n.446G>T
ENST00000692234.1:c.*276G>T	ENSP00000508508.1:n.*276G>T
ENST00000692855.1:n.563G>T
ENST00000692875.1:c.361G>T	ENSP00000508785.1:p.Val121Leu
ENST00000693173.1:c.*406G>T	ENSP00000510143.1:n.*406G>T
ENST00000693373.1:n.400G>T
ENST00000367762.2:c.412G>T	ENSP00000356736.2:p.Val138Leu
ENST00000367763.8:c.412G>T MANE Select	ENSP00000356737.4:p.Val138Leu
ENST00000498166.6:c.*406G>T	ENSP00000473336.2:n.*406G>T
ENST00000367762.1:c.487G>T	ENSP00000356736.1:p.Val163Leu
ENST00000367763.7:c.487G>T	ENSP00000356737.3:p.Val163Leu
ENST00000465717.1:n.498G>T
ENST00000498166.5:c.785G>T
ENST00000498600.2:n.499G>T
NM_001146039.1:c.487G>T	NP_001139511.1:p.Val163Leu
NM_152281.2:c.487G>T	NP_689494.2:p.Val163Leu
NR_027397.1:n.514G>T
XM_006711628.2:c.-58G>T	XP_006711691.1:n.-58G>T
XM_006711629.2:c.-54G>T	XP_006711692.1:n.-54G>T
XM_011510149.1:c.436G>T	XP_011508451.1:p.Val146Leu
XM_011510150.1:c.-58G>T	XP_011508452.1:n.-58G>T
XM_011510151.1:c.-58G>T	XP_011508453.1:n.-58G>T
NM_001320252.1:c.-54G>T	NP_001307181.1:n.-54G>T
XM_006711628.4:c.-58G>T	XP_006711691.1:n.-58G>T
XM_011510149.2:c.436G>T	XP_011508451.1:p.Val146Leu
XM_011510150.3:c.-58G>T	XP_011508452.1:n.-58G>T
XM_017002807.1:c.-58G>T	XP_016858296.1:n.-58G>T
XM_024450864.1:c.-54G>T	XP_024306632.1:n.-54G>T
NM_001146039.2:c.412G>T	NP_001139511.2:p.Val138Leu
NM_001320252.2:c.-54G>T	NP_001307181.1:n.-54G>T
NM_152281.3:c.412G>T MANE Select	NP_689494.3:p.Val138Leu
NR_027397.2:n.470G>T