Canonical Allele Identifier: CA1151814

Gene: RIT1

Linked Data

• ClinVar Variation Id: 190305
• ClinVar RCV Id: RCV000170493 ; RCV000355969 ; RCV001813422 ; RCV003416059 ; RCV004020021
• dbSNP Id: rs483352822
• ExAC: 1:155874261 C / G
• gnomAD v2: 1-155874261-C-G
• COSMIC: COSM5004336
• MyVariant Identifiers: chr1:g.155874261C>G (hg19) ; chr1:g.155904470C>G (hg38)
• PubMed: PMID:24939608

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904470C>G , CM000663.2:g.155904470C>G	GRCh38
NC_000001.10:g.155874261C>G , CM000663.1:g.155874261C>G	GRCh37
NC_000001.9:g.154140885C>G	NCBI36
NG_033885.1:g.11933G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461050.6:c.278G>C	ENSP00000476319.1:p.Ter93Ser
ENST00000539040.6:c.162G>C	ENSP00000441950.1:p.Met54Ile
ENST00000704061.1:c.247G>C	ENSP00000515664.1:p.Glu83Gln
ENST00000368323.8:c.270G>C MANE Select	ENSP00000357306.3:p.Met90Ile
ENST00000651833.1:c.270G>C	ENSP00000498732.1:p.Met90Ile
ENST00000651853.1:c.273G>C	ENSP00000498685.1:p.Met91Ile
ENST00000368322.7:c.321G>C	ENSP00000357305.3:p.Met107Ile
ENST00000368323.7:c.270G>C	ENSP00000357306.3:p.Met90Ile
ENST00000461050.5:c.278G>C	ENSP00000476319.1:p.Ter93Ser
ENST00000539040.5:c.162G>C	ENSP00000441950.1:p.Met54Ile
ENST00000609492.1:c.270G>C	ENSP00000476612.1:p.Met90Ile
NM_001256820.1:c.162G>C	NP_001243749.1:p.Met54Ile
NM_001256821.1:c.321G>C	NP_001243750.1:p.Met107Ile
NM_006912.5:c.270G>C	NP_008843.1:p.Met90Ile
NM_001256820.2:c.162G>C	NP_001243749.1:p.Met54Ile
NM_001256821.2:c.321G>C	NP_001243750.1:p.Met107Ile
NM_006912.6:c.270G>C MANE Select	NP_008843.1:p.Met90Ile