Canonical Allele Identifier: CA343162497

Gene: GORAB

Linked Data

• gnomAD v4: 1-170539419-C-T
• MyVariant Identifiers: chr1:g.170508560C>T (hg19) ; chr1:g.170539419C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170539419C>T , CM000663.2:g.170539419C>T	GRCh38
NC_000001.10:g.170508560C>T , CM000663.1:g.170508560C>T	GRCh37
NC_000001.9:g.168775184C>T	NCBI36
NG_012237.1:g.12298C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684929.1:n.240C>T
ENST00000685515.1:c.*135C>T	ENSP00000509073.1:n.*135C>T
ENST00000685976.1:n.376C>T
ENST00000686135.1:n.1731C>T
ENST00000686870.1:c.271C>T	ENSP00000510121.1:p.Leu91Phe
ENST00000687370.1:n.3287C>T
ENST00000687880.1:c.*265C>T	ENSP00000508486.1:n.*265C>T
ENST00000688499.1:c.*135C>T	ENSP00000509581.1:n.*135C>T
ENST00000688688.1:c.220C>T	ENSP00000510426.1:p.Leu74Phe
ENST00000689173.1:c.*265C>T	ENSP00000509341.1:n.*265C>T
ENST00000690124.1:n.435C>T
ENST00000690898.1:n.460C>T
ENST00000691199.1:n.191-3072C>T
ENST00000691235.1:n.139-3072C>T
ENST00000691574.1:n.305C>T
ENST00000692234.1:c.*135C>T	ENSP00000508508.1:n.*135C>T
ENST00000692855.1:n.422C>T
ENST00000692875.1:c.220C>T	ENSP00000508785.1:p.Leu74Phe
ENST00000693173.1:c.*265C>T	ENSP00000510143.1:n.*265C>T
ENST00000693373.1:n.259C>T
ENST00000367762.2:c.271C>T	ENSP00000356736.2:p.Leu91Phe
ENST00000367763.8:c.271C>T MANE Select	ENSP00000356737.4:p.Leu91Phe
ENST00000498166.6:c.*265C>T	ENSP00000473336.2:n.*265C>T
ENST00000367762.1:c.346C>T	ENSP00000356736.1:p.Leu116Phe
ENST00000367763.7:c.346C>T	ENSP00000356737.3:p.Leu116Phe
ENST00000465717.1:n.357C>T
ENST00000498166.5:c.644C>T
ENST00000498600.2:n.358C>T
NM_001146039.1:c.346C>T	NP_001139511.1:p.Leu116Phe
NM_152281.2:c.346C>T	NP_689494.2:p.Leu116Phe
NR_027397.1:n.373C>T
XM_006711628.2:c.-199C>T	XP_006711691.1:n.-199C>T
XM_006711629.2:c.-195C>T	XP_006711692.1:n.-195C>T
XM_011510149.1:c.295C>T	XP_011508451.1:p.Leu99Phe
XM_011510150.1:c.-199C>T	XP_011508452.1:n.-199C>T
XM_011510151.1:c.-199C>T	XP_011508453.1:n.-199C>T
NM_001320252.1:c.-195C>T	NP_001307181.1:n.-195C>T
XM_006711628.4:c.-199C>T	XP_006711691.1:n.-199C>T
XM_011510149.2:c.295C>T	XP_011508451.1:p.Leu99Phe
XM_011510150.3:c.-199C>T	XP_011508452.1:n.-199C>T
XM_017002807.1:c.-199C>T	XP_016858296.1:n.-199C>T
XM_024450864.1:c.-195C>T	XP_024306632.1:n.-195C>T
NM_001146039.2:c.271C>T	NP_001139511.2:p.Leu91Phe
NM_001320252.2:c.-195C>T	NP_001307181.1:n.-195C>T
NM_152281.3:c.271C>T MANE Select	NP_689494.3:p.Leu91Phe
NR_027397.2:n.329C>T