Canonical Allele Identifier: CA1151760

Gene: RIT1

Linked Data

• ClinVar Variation Id: 280150
• ClinVar RCV Id: RCV000373670 ; RCV001342293 ; RCV001174993 ; RCV001813440 ; RCV002365291
• dbSNP Id: rs563231684
• ExAC: 1:155870205 G / A
• gnomAD v2: 1-155870205-G-A
• gnomAD v3: 1-155900414-G-A
• gnomAD v4: 1-155900414-G-A
• MyVariant Identifiers: chr1:g.155870205G>A (hg19) ; chr1:g.155900414G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155900414G>A , CM000663.2:g.155900414G>A	GRCh38
NC_000001.10:g.155870205G>A , CM000663.1:g.155870205G>A	GRCh37
NC_000001.9:g.154136829G>A	NCBI36
NG_033885.1:g.15989C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461050.6:c.*363C>T	ENSP00000476319.1:n.*363C>T
ENST00000539040.6:c.526C>T	ENSP00000441950.1:p.Arg176Trp
ENST00000704061.1:c.*305C>T	ENSP00000515664.1:n.*305C>T
ENST00000368323.8:c.634C>T MANE Select	ENSP00000357306.3:p.Arg212Trp
ENST00000651853.1:c.637C>T	ENSP00000498685.1:p.Arg213Trp
ENST00000368322.7:c.685C>T	ENSP00000357305.3:p.Arg229Trp
ENST00000368323.7:c.634C>T	ENSP00000357306.3:p.Arg212Trp
ENST00000461050.5:c.*363C>T	ENSP00000476319.1:n.*363C>T
ENST00000539040.5:c.526C>T	ENSP00000441950.1:p.Arg176Trp
NM_001256820.1:c.526C>T	NP_001243749.1:p.Arg176Trp
NM_001256821.1:c.685C>T	NP_001243750.1:p.Arg229Trp
NM_006912.5:c.634C>T	NP_008843.1:p.Arg212Trp
NM_001256820.2:c.526C>T	NP_001243749.1:p.Arg176Trp
NM_001256821.2:c.685C>T	NP_001243750.1:p.Arg229Trp
NM_006912.6:c.634C>T MANE Select	NP_008843.1:p.Arg212Trp