Canonical Allele Identifier: CA1151801

Gene: RIT1

Linked Data

• ClinVar Variation Id: 2077068
• ClinVar RCV Id: RCV002985338 ; RCV003250679
• dbSNP Id: rs752204910
• ExAC: 1:155874157 T / C
• gnomAD v2: 1-155874157-T-C
• gnomAD v4: 1-155904366-T-C
• MyVariant Identifiers: chr1:g.155874157T>C (hg19) ; chr1:g.155904366T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904366T>C , CM000663.2:g.155904366T>C	GRCh38
NC_000001.10:g.155874157T>C , CM000663.1:g.155874157T>C	GRCh37
NC_000001.9:g.154140781T>C	NCBI36
NG_033885.1:g.12037A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461050.6:c.*103A>G	ENSP00000476319.1:n.*103A>G
ENST00000539040.6:c.266A>G	ENSP00000441950.1:p.Asp89Gly
ENST00000704061.1:c.*45A>G	ENSP00000515664.1:n.*45A>G
ENST00000368323.8:c.374A>G MANE Select	ENSP00000357306.3:p.Asp125Gly
ENST00000651853.1:c.377A>G	ENSP00000498685.1:p.Asp126Gly
ENST00000368322.7:c.425A>G	ENSP00000357305.3:p.Asp142Gly
ENST00000368323.7:c.374A>G	ENSP00000357306.3:p.Asp125Gly
ENST00000461050.5:c.*103A>G	ENSP00000476319.1:n.*103A>G
ENST00000539040.5:c.266A>G	ENSP00000441950.1:p.Asp89Gly
ENST00000609492.1:c.374A>G	ENSP00000476612.1:p.Asp125Gly
NM_001256820.1:c.266A>G	NP_001243749.1:p.Asp89Gly
NM_001256821.1:c.425A>G	NP_001243750.1:p.Asp142Gly
NM_006912.5:c.374A>G	NP_008843.1:p.Asp125Gly
NM_001256820.2:c.266A>G	NP_001243749.1:p.Asp89Gly
NM_001256821.2:c.425A>G	NP_001243750.1:p.Asp142Gly
NM_006912.6:c.374A>G MANE Select	NP_008843.1:p.Asp125Gly