Canonical Allele Identifier: CA343163204

Gene: GORAB

Linked Data

• MyVariant Identifiers: chr1:g.170508709G>T (hg19) ; chr1:g.170539568G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170539568G>T , CM000663.2:g.170539568G>T	GRCh38
NC_000001.10:g.170508709G>T , CM000663.1:g.170508709G>T	GRCh37
NC_000001.9:g.168775333G>T	NCBI36
NG_012237.1:g.12447G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684929.1:n.389G>T
ENST00000685515.1:c.*283+1G>T	ENSP00000509073.1:n.*283+1G>T
ENST00000685976.1:n.524+1G>T
ENST00000686135.1:n.1880G>T
ENST00000686870.1:c.420G>T	ENSP00000510121.1:p.Leu140Phe
ENST00000687370.1:n.3435+1G>T
ENST00000687880.1:c.*414G>T	ENSP00000508486.1:n.*414G>T
ENST00000688499.1:c.*284G>T	ENSP00000509581.1:n.*284G>T
ENST00000688688.1:c.368+1G>T	ENSP00000510426.1:n.368+1G>T
ENST00000689173.1:c.*414G>T	ENSP00000509341.1:n.*414G>T
ENST00000690124.1:n.583+1G>T
ENST00000690898.1:n.609G>T
ENST00000691199.1:n.191-2923G>T
ENST00000691235.1:n.139-2923G>T
ENST00000691574.1:n.454G>T
ENST00000692234.1:c.*283+1G>T	ENSP00000508508.1:n.*283+1G>T
ENST00000692855.1:n.571G>T
ENST00000692875.1:c.369G>T	ENSP00000508785.1:p.Leu123Phe
ENST00000693173.1:c.*414G>T	ENSP00000510143.1:n.*414G>T
ENST00000693373.1:n.408G>T
ENST00000367762.2:c.419+1G>T	ENSP00000356736.2:n.419+1G>T
ENST00000367763.8:c.419+1G>T MANE Select	ENSP00000356737.4:n.419+1G>T
ENST00000498166.6:c.*413+1G>T	ENSP00000473336.2:n.*413+1G>T
ENST00000367762.1:c.494+1G>T	ENSP00000356736.1:n.494+1G>T
ENST00000367763.7:c.494+1G>T	ENSP00000356737.3:n.494+1G>T
ENST00000465717.1:n.506G>T
ENST00000498166.5:c.792+1G>T
ENST00000498600.2:n.507G>T
NM_001146039.1:c.494+1G>T	NP_001139511.1:n.494+1G>T
NM_152281.2:c.494+1G>T	NP_689494.2:n.494+1G>T
NR_027397.1:n.522G>T
XM_006711628.2:c.-50G>T	XP_006711691.1:n.-50G>T
XM_006711629.2:c.-47+1G>T	XP_006711692.1:n.-47+1G>T
XM_011510149.1:c.443+1G>T	XP_011508451.1:n.443+1G>T
XM_011510150.1:c.-50G>T	XP_011508452.1:n.-50G>T
XM_011510151.1:c.-50G>T	XP_011508453.1:n.-50G>T
NM_001320252.1:c.-47+1G>T	NP_001307181.1:n.-47+1G>T
XM_006711628.4:c.-50G>T	XP_006711691.1:n.-50G>T
XM_011510149.2:c.443+1G>T	XP_011508451.1:n.443+1G>T
XM_011510150.3:c.-50G>T	XP_011508452.1:n.-50G>T
XM_017002807.1:c.-50G>T	XP_016858296.1:n.-50G>T
XM_024450864.1:c.-47+1G>T	XP_024306632.1:n.-47+1G>T
NM_001146039.2:c.419+1G>T	NP_001139511.2:n.419+1G>T
NM_001320252.2:c.-47+1G>T	NP_001307181.1:n.-47+1G>T
NM_152281.3:c.419+1G>T MANE Select	NP_689494.3:n.419+1G>T
NR_027397.2:n.478G>T