Canonical Allele Identifier: CA343162992

Gene: GORAB

Linked Data

• COSMIC: COSM3802802
• MyVariant Identifiers: chr1:g.170508668C>A (hg19) ; chr1:g.170539527C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170539527C>A , CM000663.2:g.170539527C>A	GRCh38
NC_000001.10:g.170508668C>A , CM000663.1:g.170508668C>A	GRCh37
NC_000001.9:g.168775292C>A	NCBI36
NG_012237.1:g.12406C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684929.1:n.348C>A
ENST00000685515.1:c.*243C>A	ENSP00000509073.1:n.*243C>A
ENST00000685976.1:n.484C>A
ENST00000686135.1:n.1839C>A
ENST00000686870.1:c.379C>A	ENSP00000510121.1:p.Pro127Thr
ENST00000687370.1:n.3395C>A
ENST00000687880.1:c.*373C>A	ENSP00000508486.1:n.*373C>A
ENST00000688499.1:c.*243C>A	ENSP00000509581.1:n.*243C>A
ENST00000688688.1:c.328C>A	ENSP00000510426.1:p.Pro110Thr
ENST00000689173.1:c.*373C>A	ENSP00000509341.1:n.*373C>A
ENST00000690124.1:n.543C>A
ENST00000690898.1:n.568C>A
ENST00000691199.1:n.191-2964C>A
ENST00000691235.1:n.139-2964C>A
ENST00000691574.1:n.413C>A
ENST00000692234.1:c.*243C>A	ENSP00000508508.1:n.*243C>A
ENST00000692855.1:n.530C>A
ENST00000692875.1:c.328C>A	ENSP00000508785.1:p.Pro110Thr
ENST00000693173.1:c.*373C>A	ENSP00000510143.1:n.*373C>A
ENST00000693373.1:n.367C>A
ENST00000367762.2:c.379C>A	ENSP00000356736.2:p.Pro127Thr
ENST00000367763.8:c.379C>A MANE Select	ENSP00000356737.4:p.Pro127Thr
ENST00000498166.6:c.*373C>A	ENSP00000473336.2:n.*373C>A
ENST00000367762.1:c.454C>A	ENSP00000356736.1:p.Pro152Thr
ENST00000367763.7:c.454C>A	ENSP00000356737.3:p.Pro152Thr
ENST00000465717.1:n.465C>A
ENST00000498166.5:c.752C>A
ENST00000498600.2:n.466C>A
NM_001146039.1:c.454C>A	NP_001139511.1:p.Pro152Thr
NM_152281.2:c.454C>A	NP_689494.2:p.Pro152Thr
NR_027397.1:n.481C>A
XM_006711628.2:c.-91C>A	XP_006711691.1:n.-91C>A
XM_006711629.2:c.-87C>A	XP_006711692.1:n.-87C>A
XM_011510149.1:c.403C>A	XP_011508451.1:p.Pro135Thr
XM_011510150.1:c.-91C>A	XP_011508452.1:n.-91C>A
XM_011510151.1:c.-91C>A	XP_011508453.1:n.-91C>A
NM_001320252.1:c.-87C>A	NP_001307181.1:n.-87C>A
XM_006711628.4:c.-91C>A	XP_006711691.1:n.-91C>A
XM_011510149.2:c.403C>A	XP_011508451.1:p.Pro135Thr
XM_011510150.3:c.-91C>A	XP_011508452.1:n.-91C>A
XM_017002807.1:c.-91C>A	XP_016858296.1:n.-91C>A
XM_024450864.1:c.-87C>A	XP_024306632.1:n.-87C>A
NM_001146039.2:c.379C>A	NP_001139511.2:p.Pro127Thr
NM_001320252.2:c.-87C>A	NP_001307181.1:n.-87C>A
NM_152281.3:c.379C>A MANE Select	NP_689494.3:p.Pro127Thr
NR_027397.2:n.437C>A