Canonical Allele Identifier: CA421054342

Gene: RIT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155910451A>T , CM000663.2:g.155910451A>T	GRCh38
NC_000001.10:g.155880242A>T , CM000663.1:g.155880242A>T	GRCh37
NC_000001.9:g.154146866A>T	NCBI36
NG_033885.1:g.5952T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006912.6:c.162T>A MANE Select	NP_008843.1:p.Ile54=
ENST00000368323.8:c.162T>A MANE Select	ENSP00000357306.3:p.Ile54=
NM_001256820.1:c.54T>A	NP_001243749.1:p.Ile18=
NM_001256820.2:c.54T>A	NP_001243749.1:p.Ile18=
NM_001256821.1:c.213T>A	NP_001243750.1:p.Ile71=
NM_001256821.2:c.213T>A	NP_001243750.1:p.Ile71=
NM_006912.5:c.162T>A	NP_008843.1:p.Ile54=
ENST00000368322.7:c.213T>A	ENSP00000357305.3:p.Ile71=
ENST00000368323.7:c.162T>A	ENSP00000357306.3:p.Ile54=
ENST00000461050.5:c.162T>A	ENSP00000476319.1:p.Ile54=
ENST00000461050.6:c.162T>A	ENSP00000476319.1:p.Ile54=
ENST00000462687.1:n.192T>A
ENST00000539040.5:c.54T>A	ENSP00000441950.1:p.Ile18=
ENST00000539040.6:c.54T>A	ENSP00000441950.1:p.Ile18=
ENST00000609492.1:c.162T>A	ENSP00000476612.1:p.Ile54=
ENST00000650659.1:n.344T>A
ENST00000651833.1:c.162T>A	ENSP00000498732.1:p.Ile54=
ENST00000651853.1:c.162T>A	ENSP00000498685.1:p.Ile54=
ENST00000704061.1:c.213T>A	ENSP00000515664.1:p.Ile71=