Canonical Allele Identifier: CA32469718

Gene: GORAB

Linked Data

• dbSNP Id: rs916210169
• gnomAD v3: 1-170539421-C-T
• gnomAD v4: 1-170539421-C-T
• MyVariant Identifiers: chr1:g.170508562C>T (hg19) ; chr1:g.170539421C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170539421C>T , CM000663.2:g.170539421C>T	GRCh38
NC_000001.10:g.170508562C>T , CM000663.1:g.170508562C>T	GRCh37
NC_000001.9:g.168775186C>T	NCBI36
NG_012237.1:g.12300C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684929.1:n.242C>T
ENST00000685515.1:c.*137C>T	ENSP00000509073.1:n.*137C>T
ENST00000685976.1:n.378C>T
ENST00000686135.1:n.1733C>T
ENST00000686870.1:c.273C>T	ENSP00000510121.1:p.Leu91=
ENST00000687370.1:n.3289C>T
ENST00000687880.1:c.*267C>T	ENSP00000508486.1:n.*267C>T
ENST00000688499.1:c.*137C>T	ENSP00000509581.1:n.*137C>T
ENST00000688688.1:c.222C>T	ENSP00000510426.1:p.Leu74=
ENST00000689173.1:c.*267C>T	ENSP00000509341.1:n.*267C>T
ENST00000690124.1:n.437C>T
ENST00000690898.1:n.462C>T
ENST00000691199.1:n.191-3070C>T
ENST00000691235.1:n.139-3070C>T
ENST00000691574.1:n.307C>T
ENST00000692234.1:c.*137C>T	ENSP00000508508.1:n.*137C>T
ENST00000692855.1:n.424C>T
ENST00000692875.1:c.222C>T	ENSP00000508785.1:p.Leu74=
ENST00000693173.1:c.*267C>T	ENSP00000510143.1:n.*267C>T
ENST00000693373.1:n.261C>T
ENST00000367762.2:c.273C>T	ENSP00000356736.2:p.Leu91=
ENST00000367763.8:c.273C>T MANE Select	ENSP00000356737.4:p.Leu91=
ENST00000498166.6:c.*267C>T	ENSP00000473336.2:n.*267C>T
ENST00000367762.1:c.348C>T	ENSP00000356736.1:p.Leu116=
ENST00000367763.7:c.348C>T	ENSP00000356737.3:p.Leu116=
ENST00000465717.1:n.359C>T
ENST00000498166.5:c.646C>T
ENST00000498600.2:n.360C>T
NM_001146039.1:c.348C>T	NP_001139511.1:p.Leu116=
NM_152281.2:c.348C>T	NP_689494.2:p.Leu116=
NR_027397.1:n.375C>T
XM_006711628.2:c.-197C>T	XP_006711691.1:n.-197C>T
XM_006711629.2:c.-193C>T	XP_006711692.1:n.-193C>T
XM_011510149.1:c.297C>T	XP_011508451.1:p.Leu99=
XM_011510150.1:c.-197C>T	XP_011508452.1:n.-197C>T
XM_011510151.1:c.-197C>T	XP_011508453.1:n.-197C>T
NM_001320252.1:c.-193C>T	NP_001307181.1:n.-193C>T
XM_006711628.4:c.-197C>T	XP_006711691.1:n.-197C>T
XM_011510149.2:c.297C>T	XP_011508451.1:p.Leu99=
XM_011510150.3:c.-197C>T	XP_011508452.1:n.-197C>T
XM_017002807.1:c.-197C>T	XP_016858296.1:n.-197C>T
XM_024450864.1:c.-193C>T	XP_024306632.1:n.-193C>T
NM_001146039.2:c.273C>T	NP_001139511.2:p.Leu91=
NM_001320252.2:c.-193C>T	NP_001307181.1:n.-193C>T
NM_152281.3:c.273C>T MANE Select	NP_689494.3:p.Leu91=
NR_027397.2:n.331C>T