Canonical Allele Identifier: CA1239195

Gene: GORAB

Linked Data

• ClinVar Variation Id: 293659
• ClinVar RCV Id: RCV000288781 ; RCV000860958
• dbSNP Id: rs76365864
• ExAC: 1:170513981 C / T
• gnomAD v2: 1-170513981-C-T
• gnomAD v3: 1-170544840-C-T
• gnomAD v4: 1-170544840-C-T
• MyVariant Identifiers: chr1:g.170513981C>T (hg19) ; chr1:g.170544840C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170544840C>T , CM000663.2:g.170544840C>T	GRCh38
NC_000001.10:g.170513981C>T , CM000663.1:g.170513981C>T	GRCh37
NC_000001.9:g.168780605C>T	NCBI36
NG_012237.1:g.17719C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685515.1:c.*521C>T	ENSP00000509073.1:n.*521C>T
ENST00000686021.1:n.772C>T
ENST00000686870.1:c.*175C>T	ENSP00000510121.1:n.*175C>T
ENST00000687370.1:n.3673C>T
ENST00000687880.1:c.*655C>T	ENSP00000508486.1:n.*655C>T
ENST00000688499.1:c.*525C>T	ENSP00000509581.1:n.*525C>T
ENST00000688688.1:c.606C>T	ENSP00000510426.1:p.Tyr202=
ENST00000689173.1:c.*655C>T	ENSP00000509341.1:n.*655C>T
ENST00000690124.1:n.821C>T
ENST00000690898.1:n.850C>T
ENST00000691051.1:n.1396C>T
ENST00000691199.1:n.428C>T
ENST00000691235.1:n.376C>T
ENST00000692234.1:c.*521C>T	ENSP00000508508.1:n.*521C>T
ENST00000692855.1:n.812C>T
ENST00000692875.1:c.*175C>T	ENSP00000508785.1:n.*175C>T
ENST00000693173.1:c.*655C>T	ENSP00000510143.1:n.*655C>T
ENST00000693373.1:n.649C>T
ENST00000367762.2:c.657C>T	ENSP00000356736.2:p.Tyr219=
ENST00000367763.8:c.657C>T MANE Select	ENSP00000356737.4:p.Tyr219=
ENST00000498166.6:c.*651C>T	ENSP00000473336.2:n.*651C>T
ENST00000367762.1:c.732C>T	ENSP00000356736.1:p.Tyr244=
ENST00000367763.7:c.732C>T	ENSP00000356737.3:p.Tyr244=
ENST00000475113.1:n.201C>T
ENST00000498166.5:c.1030C>T
ENST00000498600.2:n.748C>T
NM_001146039.1:c.732C>T	NP_001139511.1:p.Tyr244=
NM_152281.2:c.732C>T	NP_689494.2:p.Tyr244=
NR_027397.1:n.763C>T
XM_006711628.2:c.192C>T	XP_006711691.1:p.Tyr64=
XM_006711629.2:c.192C>T	XP_006711692.1:p.Tyr64=
XM_011510149.1:c.681C>T	XP_011508451.1:p.Tyr227=
XM_011510150.1:c.192C>T	XP_011508452.1:p.Tyr64=
XM_011510151.1:c.192C>T	XP_011508453.1:p.Tyr64=
NM_001320252.1:c.192C>T	NP_001307181.1:p.Tyr64=
XM_006711628.4:c.192C>T	XP_006711691.1:p.Tyr64=
XM_011510149.2:c.681C>T	XP_011508451.1:p.Tyr227=
XM_011510150.3:c.192C>T	XP_011508452.1:p.Tyr64=
XM_017002807.1:c.192C>T	XP_016858296.1:p.Tyr64=
XM_024450864.1:c.192C>T	XP_024306632.1:p.Tyr64=
NM_001146039.2:c.657C>T	NP_001139511.2:p.Tyr219=
NM_001320252.2:c.192C>T	NP_001307181.1:p.Tyr64=
NM_152281.3:c.657C>T MANE Select	NP_689494.3:p.Tyr219=
NR_027397.2:n.719C>T