Canonical Allele Identifier: CA343162690

Gene: GORAB

Linked Data

• MyVariant Identifiers: chr1:g.170508606A>C (hg19) ; chr1:g.170539465A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170539465A>C , CM000663.2:g.170539465A>C	GRCh38
NC_000001.10:g.170508606A>C , CM000663.1:g.170508606A>C	GRCh37
NC_000001.9:g.168775230A>C	NCBI36
NG_012237.1:g.12344A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684929.1:n.286A>C
ENST00000685515.1:c.*181A>C	ENSP00000509073.1:n.*181A>C
ENST00000685976.1:n.422A>C
ENST00000686135.1:n.1777A>C
ENST00000686870.1:c.317A>C	ENSP00000510121.1:p.Gln106Pro
ENST00000687370.1:n.3333A>C
ENST00000687880.1:c.*311A>C	ENSP00000508486.1:n.*311A>C
ENST00000688499.1:c.*181A>C	ENSP00000509581.1:n.*181A>C
ENST00000688688.1:c.266A>C	ENSP00000510426.1:p.Gln89Pro
ENST00000689173.1:c.*311A>C	ENSP00000509341.1:n.*311A>C
ENST00000690124.1:n.481A>C
ENST00000690898.1:n.506A>C
ENST00000691199.1:n.191-3026A>C
ENST00000691235.1:n.139-3026A>C
ENST00000691574.1:n.351A>C
ENST00000692234.1:c.*181A>C	ENSP00000508508.1:n.*181A>C
ENST00000692855.1:n.468A>C
ENST00000692875.1:c.266A>C	ENSP00000508785.1:p.Gln89Pro
ENST00000693173.1:c.*311A>C	ENSP00000510143.1:n.*311A>C
ENST00000693373.1:n.305A>C
ENST00000367762.2:c.317A>C	ENSP00000356736.2:p.Gln106Pro
ENST00000367763.8:c.317A>C MANE Select	ENSP00000356737.4:p.Gln106Pro
ENST00000498166.6:c.*311A>C	ENSP00000473336.2:n.*311A>C
ENST00000367762.1:c.392A>C	ENSP00000356736.1:p.Gln131Pro
ENST00000367763.7:c.392A>C	ENSP00000356737.3:p.Gln131Pro
ENST00000465717.1:n.403A>C
ENST00000498166.5:c.690A>C
ENST00000498600.2:n.404A>C
NM_001146039.1:c.392A>C	NP_001139511.1:p.Gln131Pro
NM_152281.2:c.392A>C	NP_689494.2:p.Gln131Pro
NR_027397.1:n.419A>C
XM_006711628.2:c.-153A>C	XP_006711691.1:n.-153A>C
XM_006711629.2:c.-149A>C	XP_006711692.1:n.-149A>C
XM_011510149.1:c.341A>C	XP_011508451.1:p.Gln114Pro
XM_011510150.1:c.-153A>C	XP_011508452.1:n.-153A>C
XM_011510151.1:c.-153A>C	XP_011508453.1:n.-153A>C
NM_001320252.1:c.-149A>C	NP_001307181.1:n.-149A>C
XM_006711628.4:c.-153A>C	XP_006711691.1:n.-153A>C
XM_011510149.2:c.341A>C	XP_011508451.1:p.Gln114Pro
XM_011510150.3:c.-153A>C	XP_011508452.1:n.-153A>C
XM_017002807.1:c.-153A>C	XP_016858296.1:n.-153A>C
XM_024450864.1:c.-149A>C	XP_024306632.1:n.-149A>C
NM_001146039.2:c.317A>C	NP_001139511.2:p.Gln106Pro
NM_001320252.2:c.-149A>C	NP_001307181.1:n.-149A>C
NM_152281.3:c.317A>C MANE Select	NP_689494.3:p.Gln106Pro
NR_027397.2:n.375A>C